ClinVar Genomic variation as it relates to human health
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
Variation ID: 11829 Accession: VCV000011829.108
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: Xq28 X: 154031065 (GRCh38) [ NCBI UCSC ] X: 153296516 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 22, 2015 Oct 8, 2024 Mar 29, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001110792.2:c.799C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001104262.1:p.Arg267Ter nonsense NM_004992.4:c.763C>T MANE Plus Clinical Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_004983.1:p.Arg255Ter nonsense NM_001110792.1:c.799C>T NM_001316337.2:c.484C>T NP_001303266.1:p.Arg162Ter nonsense NM_001369391.2:c.484C>T NP_001356320.1:p.Arg162Ter nonsense NM_001369392.2:c.484C>T NP_001356321.1:p.Arg162Ter nonsense NM_001369393.2:c.484C>T NP_001356322.1:p.Arg162Ter nonsense NM_001369394.2:c.484C>T NP_001356323.1:p.Arg162Ter nonsense NM_001386137.1:c.94C>T NP_001373066.1:p.Arg32Ter nonsense NM_001386138.1:c.94C>T NP_001373067.1:p.Arg32Ter nonsense NM_001386139.1:c.94C>T NP_001373068.1:p.Arg32Ter nonsense NC_000023.11:g.154031065G>A NC_000023.10:g.153296516G>A NG_007107.3:g.111039C>T LRG_764:g.111039C>T LRG_764t1:c.799C>T LRG_764p1:p.Arg267Ter LRG_764t2:c.763C>T LRG_764p2:p.Arg255Ter AJ132917.1:c.763C>T - Protein change
- R255*, R267*, R162*, R32*
- Other names
- p.R255*:CGA>TGA
- NM_001110792.2(MECP2):c.799C>T
- p.Arg267Ter
- p.Arg255Ter
- Canonical SPDI
- NC_000023.11:154031064:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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MECP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1887 | 2214 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic/Likely pathogenic (23) |
criteria provided, multiple submitters, no conflicts
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Mar 13, 2024 | RCV000012602.65 | |
Pathogenic (12) |
criteria provided, multiple submitters, no conflicts
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Mar 27, 2023 | RCV000081209.60 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 5, 2013 | RCV000169938.12 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 10, 2022 | RCV000515183.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 25, 2023 | RCV000553858.17 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 10, 2021 | RCV001813976.9 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV002273928.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 28, 2023 | RCV002313706.9 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 29, 2024 | RCV003989103.2 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV004698464.1 | |
Pathogenic (2) |
criteria provided, single submitter
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- | RCV004545727.2 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Nov 16, 2016)
|
criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
de novo
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Neurogenetics Laboratory - MEYER, AOU Meyer
Accession: SCV000494538.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Family history: no
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Pathogenic
(Nov 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
de novo
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Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Study: Clinvar_gadteam_Clinical_exome_analysis_3
Accession: SCV000803887.1 First in ClinVar: May 03, 2018 Last updated: May 03, 2018 |
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Pathogenic
(Jun 15, 2017)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: unknown
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448874.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Nov 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000191046.11
First in ClinVar: Nov 01, 2014 Last updated: Jul 24, 2021 |
Comment:
Published many times in association with both classic and atypical Rett syndrome (for examples, see Hoffbuhr et al., 2001; Yamada et al., 2001; Neul et … (more)
Published many times in association with both classic and atypical Rett syndrome (for examples, see Hoffbuhr et al., 2001; Yamada et al., 2001; Neul et al., 2008; Lima et al., 2009); Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Functional studies indicate this variant affects the protein's ability to repress transcription, and it has been shown to reduce microtubule stability (Yusufzai et al., 2000; Delepine et al., 2013); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31512412, 31535341, 31139143, 30829465, 31134136, 30536762, 29655203, 30564305, 28135719, 28399682, 28263302, 26175308, 16077729, 27824329, 19722030, 18337588, 11524741, 11402105, 23238081, 10508514, 11058114, 25634563, 21575601, 23270700, 18174548) (less)
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Pathogenic
(Mar 16, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002047063.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
Comment:
The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one patient with expected … (more)
The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity. (less)
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Pathogenic
(Mar 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604145.5
First in ClinVar: Sep 30, 2017 Last updated: Jan 08, 2022 |
Comment:
The MECP2 c.763C>T, p.Arg255Ter variant (rs61749721) induces an early termination codon and is predicted to result in a truncated protein or absent transcript. This variant … (more)
The MECP2 c.763C>T, p.Arg255Ter variant (rs61749721) induces an early termination codon and is predicted to result in a truncated protein or absent transcript. This variant is one of the most common disease causing variants of Rett syndrome (RTT) (Neul 2008), and has been associated with both classical and atypical RTT (see link to RettBASE and references therein). Functional studies showed p.Arg255Ter to be less stable in vivo and lead to deficient transcriptional repression (Yusufzai 2000). Furthermore, this variant is reported as pathogenic in ClinVar (Variation ID: 11829), and is absent from population databases (Exome Variant Server, Exome Aggregation Consortium). Therefore, this variant is considered to be pathogenic. REFERENCES Link to RettBASE: http://mecp2.chw.edu.au/cgi-bin/mecp2/views/basic.cgi?form=basic Neul JL et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008; 70(16):1313-21. Yusufzai TM et al. Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res. 2000; 28(21):4172-9. (less)
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Pathogenic
(May 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002579873.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1_STR, PS3, PS4, PM2_SUP
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Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Nov 18, 2019)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
germline
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Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002525691.3
First in ClinVar: Jun 11, 2022 Last updated: Apr 23, 2023 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
(X-linked dominant inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004100344.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
Comment:
The stop gained p.R255* in MECP2 (NM_004992.4) has been reported reported in many individuals affected with Rett syndrome, including several de novo observations (Olivia Knight … (more)
The stop gained p.R255* in MECP2 (NM_004992.4) has been reported reported in many individuals affected with Rett syndrome, including several de novo observations (Olivia Knight et al 2013). Experimental studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and transcriptional repression (Chloe Delepine et al, 2013; T M Yusufzai wt al 2020). The variant has been reported in ClinVar as Pathogenic/Likely Pathogenic. The p.R255* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Dysarthria (present) , Inability to walk (present) , Hypotonia (present) , Genu recurvatum (present) , Global developmental delay (present) , Broad-based gait (present) , Reduced … (more)
Dysarthria (present) , Inability to walk (present) , Hypotonia (present) , Genu recurvatum (present) , Global developmental delay (present) , Broad-based gait (present) , Reduced tendon reflexes (present) (less)
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Pathogenic
(Dec 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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Severe neonatal-onset encephalopathy with microcephaly
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000645677.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg255*) in the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, … (more)
This sequence change creates a premature translational stop signal (p.Arg255*) in the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 232 amino acid(s) of the MECP2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Rett syndrome (PMID: 1241840, 10508514, 17089071, 23270700). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 11829). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects MECP2 function (PMID: 11058114, 23238081, 25634563). This variant disrupts a region of the MECP2 protein in which other variant(s) (p.Arg270*) have been determined to be pathogenic (PMID: 11058114, 11241840, 18174548, 23238081). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Mar 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Syndromic X-linked intellectual disability Lubs type
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004805683.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
|
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Pathogenic
(Feb 08, 2013)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000247996.1
First in ClinVar: Oct 05, 2015 Last updated: Oct 05, 2015 |
|
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Pathogenic
(Oct 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Rett's disorder
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000282496.2
First in ClinVar: Dec 17, 2015 Last updated: Dec 17, 2015 |
Comment:
This nonsense variant is predicted to cause a truncated protein, which is commonly known mechanism for disease. Variant is absent from large and broad cohorts … (more)
This nonsense variant is predicted to cause a truncated protein, which is commonly known mechanism for disease. Variant is absent from large and broad cohorts of the ExAC project while it has been reported in at least ten RTT patients. Many clinical labs and databases classify this variant as pathogenic. Functional studies showed that variant led to deficient transcriptional repression, decreased binding to methylated DNA, and impaired microtubule stability in astrocytes. Considering all, this variant has been classified as pathogenic. (less)
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Pathogenic
(Jul 15, 2015)
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criteria provided, single submitter
Method: clinical testing
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Rett syndrome
Affected status: yes, unknown
Allele origin:
unknown
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Molecular Diagnostics Lab, Nemours Children's Health, Delaware
Accession: SCV000537189.1
First in ClinVar: Mar 16, 2017 Last updated: Mar 16, 2017
Comment:
p.Arg255*
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Comment:
Developmental arrest; Repeated hand to mouth movements; Microcephaly; Seizures; Normal development to 6 months of age
Observation 1:
Number of individuals with the variant: 1
Age: 10-19 years
Sex: female
Observation 2:
Number of individuals with the variant: 1
Age: 0-9 years
Sex: female
|
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Pathogenic
(May 18, 2017)
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criteria provided, single submitter
Method: clinical testing
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X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611281.1
First in ClinVar: Nov 11, 2017 Last updated: Nov 11, 2017 |
|
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Pathogenic
(Jul 28, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Rett syndrome
(X-linked inheritance)
Affected status: yes
Allele origin:
unknown
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Accession: SCV000680025.1
First in ClinVar: Mar 25, 2017 Last updated: Mar 25, 2017 |
Comment:
A heterozygous nonsense variant was identified, NM_004992.3(MECP2):c.763C>T in exon 4 of the MECP2. This nonsense variant is predicted to create a change of an arginine … (more)
A heterozygous nonsense variant was identified, NM_004992.3(MECP2):c.763C>T in exon 4 of the MECP2. This nonsense variant is predicted to create a change of an arginine to a stop at amino acid position 255, NM_004992.3(MECP2):p.(Arg255*). Previous studies have shown that this results in loss of function through protein truncation (Yusufzai TM. et al, 2000). This variant is not present in the gnomAD population database and it has been previously reported multiple times in patients with Rett Syndrome (ClinVar). Additionally, functional studies showed that this variant causes loss of MECP2 transcription repression and DNA binding functions (Yusufzai TM. et al, 2000) and affects microtubule dynamics in astrocytes (Delépine C. et al,2013). Additionally, other truncating variants downstream of c.763C>T in MECP2 have been reported as pathogenic in individuals with this condition (ClinVar). Based on current information, this variant has been classified as PATHOGENIC. (less)
Clinical Features:
Vertical nystagmus (present) , Muscular hypotonia (present) , Global developmental delay (present) , Central hypoventilation (present) , Abnormal involuntary eye movements (present)
Sex: female
Tissue: Blood
Secondary finding: no
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Pathogenic
(Mar 17, 2016)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000230266.5
First in ClinVar: Jun 28, 2015 Last updated: Jul 31, 2019 |
Number of individuals with the variant: 13
Sex: mixed
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
|
not provided
(X-linked inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446890.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Global developmental delay (present) , Developmental stagnation (present) , Hypotonia (present) , Recurrent infections (present)
Sex: female
|
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Pathogenic
(Oct 16, 2014)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001449790.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 1
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: research
|
Rett syndrome
(X-linked dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
Accession: SCV001451967.1
First in ClinVar: Jul 07, 2021 Last updated: Jul 07, 2021 |
Clinical Features:
Microcephaly (present) , Stereotypical hand wringing (present) , Hypotonia (present) , Depressed nasal bridge (present) , Long philtrum (present) , Broad hallux (present) , Mutism … (more)
Microcephaly (present) , Stereotypical hand wringing (present) , Hypotonia (present) , Depressed nasal bridge (present) , Long philtrum (present) , Broad hallux (present) , Mutism (present) (less)
Age: 0-9 years
Sex: female
Ethnicity/Population group: North Indian
Geographic origin: India
|
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Pathogenic
(Jul 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Abnormality of the nervous system
Affected status: yes
Allele origin:
de novo
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Kariminejad - Najmabadi Pathology & Genetics Center
Accession: SCV001755285.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
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Pathogenic
(Jun 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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RETT SYNDROME
Affected status: yes
Allele origin:
germline
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Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV001984846.1
First in ClinVar: Oct 30, 2021 Last updated: Oct 30, 2021 |
Comment:
This variant is also referred to in the literature as c.763C>T (p.Arg255Ter) due to use of a different reference transcript (NM_004992.3). This nonsense variant found … (more)
This variant is also referred to in the literature as c.763C>T (p.Arg255Ter) due to use of a different reference transcript (NM_004992.3). This nonsense variant found in exon 3 of 3 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in multiple unrelated individuals with classic or atypical Rett syndrome (PMID: 23270700, 28135719, 17089071, 10508514, 31535341). Functional studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and interferes with transcriptional repression (PMID: 23238081, 11058114). In addition, a mouse model containing this variant recapitulates a Rett syndrome-like phenotype (PMID: 25634563). It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.799C>T (p.Arg267Ter) variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 03, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002058698.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted … (more)
Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000011829, PMID:10508514). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been previously reported as de novo in a similarly affected individual (PMID: 25533962, PS2_S). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Autistic behavior (present) , Obesity (present) , Psychomotor deterioration (present)
|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Neurodevelopmental delay
Affected status: yes
Allele origin:
de novo
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Accession: SCV002559127.1
First in ClinVar: Aug 15, 2022 Last updated: Aug 15, 2022 |
|
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Pathogenic
(Jan 10, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly Syndromic X-linked intellectual disability Lubs type Autism, susceptibility to, X-linked 3 X-linked intellectual disability-psychosis-macroorchidism syndrome Rett syndrome Rett syndrome
Affected status: unknown
Allele origin:
germline
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV003920190.1
First in ClinVar: Apr 30, 2023 Last updated: Apr 30, 2023 |
Comment:
MECP2 NM_004992.3 exon 4 p.Arg255* (c.763C>T): This variant has been reported in the literature in numerous (n>100) individuals with Rett syndrome (select publications: Amir 1999 … (more)
MECP2 NM_004992.3 exon 4 p.Arg255* (c.763C>T): This variant has been reported in the literature in numerous (n>100) individuals with Rett syndrome (select publications: Amir 1999 PMID:10508514, Knight 2013 PMID:23270700, McRae 2017 PMID:28135719, Hettiarachchi 2019 PMID:31535341, RettBASE). This variant is not present in large control databases but is present in ClinVar, with several labs classifying this variant as pathogenic (Variation ID:11829). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In addition, functional studies have shown a deleterious effect of this variant (Yusufzai 2000 PMID:11058114, Delepine 2013 PMID:23238081, Pitcher 2015 PMID:25634563). However, these studies may not accurately represent in vivo biological function. The vast majority of pathogenic variants are identified in exon 4 which encodes for the methyl binding domain and transcription repression domain. This variant creates a premature stop at this codon within exon 4 which results in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Philippe 2006 16473305). In summary, this variant is classified as pathogenic based on the data above. (less)
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
MECP2-Related Disorders
Affected status: yes
Allele origin:
germline
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV004046073.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
This variant is also referred to in the literature as c.763C>T (p.Arg255Ter) due to use of a different reference transcript (NM_004992.3). This nonsense variant found … (more)
This variant is also referred to in the literature as c.763C>T (p.Arg255Ter) due to use of a different reference transcript (NM_004992.3). This nonsense variant found in exon 3 of 3 and is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in multiple unrelated individuals with classic or atypical Rett syndrome (PMID: 23270700, 28135719, 17089071, 10508514, 31535341). Loss-of-function variation in MECP2 is an established mechanism of disease (PMID: 22781840, 26942018, 31527487). Functional studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and interferes with transcriptional repression (PMID: 23238081, 11058114). In addition, a mouse model containing this variant recapitulates a Rett syndrome-like phenotype (PMID: 25634563). The c.799C>T (p.Arg267Ter) variant is absent from the gnomAD population database and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.799C>T (p.Arg267Ter) variant is classified as Pathogenic. (less)
|
|
Pathogenic
(Jan 09, 2024)
|
criteria provided, single submitter
Method: curation
|
Rett syndrome
(X-linked inheritance)
Affected status: unknown
Allele origin:
germline
|
Centre for Population Genomics, CPG
Accession: SCV004232188.1
First in ClinVar: Feb 28, 2024 Last updated: Feb 28, 2024 |
Comment:
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert … (more)
This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: This variant is absent from gnomAD (PM2_Supporting). Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). Has been observed in at least 5 individuals with phenotypes consistent with MECP2-related disease (PS4)(PP4). Is a common, recurrent pathogenic variant ,identified as a de novo occurrence in at least one individual with Rett syndrome (PM6).(PMID: 20301670 , ClinVar database Variation ID: 11829) (less)
|
|
Pathogenic
(Mar 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002017255.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
Pathogenic
(Jul 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000848794.6
First in ClinVar: Nov 08, 2018 Last updated: May 01, 2024 |
Comment:
The c.763C>T (p.R255*) alteration, located in exon 4 (coding exon 3) of the MECP2 gene, results from a C to T substitution at nucleotide position … (more)
The c.763C>T (p.R255*) alteration, located in exon 4 (coding exon 3) of the MECP2 gene, results from a C to T substitution at nucleotide position 763. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 255. This alteration occurs at the 3' terminus of the MECP2 gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts nearly half of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This mutation has been detected in multiple individuals who meet classical clinical criteria for Rett syndrome and is a commonly reported nonsense mutation in the literature (Amir, 1999; Laccone, 2001; Li, 2007; Delépine, 2013). Based on the available evidence, this alteration is classified as pathogenic. (less)
|
|
Pathogenic
(Mar 13, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV005049756.1
First in ClinVar: Jun 09, 2024 Last updated: Jun 09, 2024 |
|
|
Pathogenic
(May 27, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005198732.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
|
|
Pathogenic
(Feb 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005088883.2
First in ClinVar: Aug 04, 2024 Last updated: Aug 25, 2024 |
Comment:
This variant was previously reported in multiple unrelated individuals with Rett syndrome [PMID: 23270700, 21982064, 23810759,10508514, 17089071] including several de novo observations. This variant was … (more)
This variant was previously reported in multiple unrelated individuals with Rett syndrome [PMID: 23270700, 21982064, 23810759,10508514, 17089071] including several de novo observations. This variant was classified a pathogenic [PMID: 23810759] and reported to be associated with bone disease severity in subjects with Rett syndrome [ PMID: 32005172]. In-vitro functional studies have shown that this nonsense change results in a truncated protein with impaired microtubule stability and transcriptional repression [PMID: 23238081, 11058114]. In addition, mouse models harboring this variant recapitulates Rett syndrome-like phenotypes [PMID: 25634563, 32927061]. (less)
|
|
Pathogenic
(Sep 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001246087.25
First in ClinVar: May 12, 2020 Last updated: Oct 08, 2024 |
Number of individuals with the variant: 3
|
|
Pathogenic
(Mar 11, 2008)
|
no assertion criteria provided
Method: literature only
|
RETT SYNDROME
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000032837.3
First in ClinVar: Apr 04, 2013 Last updated: Dec 15, 2018 |
Comment on evidence:
In a patient with sporadic Rett syndrome (RTT; 312750), Amir et al. (1999) identified an 837C-T transition in the MECP2 gene, resulting in a nonsense … (more)
In a patient with sporadic Rett syndrome (RTT; 312750), Amir et al. (1999) identified an 837C-T transition in the MECP2 gene, resulting in a nonsense mutation arg255-to-ter (R255X). Cheadle et al. (2000), Bienvenu et al. (2000), and Huppke et al. (2000) each found an R255X mutation in the methyl-CpG-binding protein in multiple patients with Rett syndrome. By analysis of genotype/phenotype correlations of Rett syndrome cases reported in a large global database, Bebbington et al. (2008) found that R270X (300005.0005) and R255X were associated with the most severe phenotype. (less)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928634.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Pathogenic
(May 08, 2024)
|
no assertion criteria provided
Method: clinical testing
|
MECP2-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV005345128.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The MECP2 c.763C>T variant is predicted to result in premature protein termination (p.Arg255*). This variant has previously been reported to be causative for Rett Syndrome … (more)
The MECP2 c.763C>T variant is predicted to result in premature protein termination (p.Arg255*). This variant has previously been reported to be causative for Rett Syndrome (Amir et al. 1999. PubMed ID: 10508514; Yusufzai et al. 2000. PubMed ID: 11058114; Pitcher et al. 2015. PubMed ID: 25634563) and it occurred de novo (Wang et al. 2019. PubMed ID: 31512412). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in MECP2 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
|
|
Pathogenic
(Dec 05, 2013)
|
no assertion criteria provided
Method: curation
|
Mental retardation, X-linked, syndromic 13
Affected status: yes
Allele origin:
de novo
|
RettBASE
Accession: SCV000188235.2
First in ClinVar: Aug 15, 2014 Last updated: Apr 22, 2015 |
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not stated
Comment on evidence:
Not Rett synd. - intellectual disability
|
|
Pathogenic
(Dec 05, 2013)
|
no assertion criteria provided
Method: curation
|
Rett syndrome
Affected status: yes
Allele origin:
unknown,
germline,
de novo
|
RettBASE
Accession: SCV000222436.1
First in ClinVar: Apr 24, 2015 Last updated: Apr 24, 2015 |
Observation 1:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome
Observation 2:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Atypical
Observation 3:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 4:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 5:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 6:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 7:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 8:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 9:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 10:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 11:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Atypical
Observation 12:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 13:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 14:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 15:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 16:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 17:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 18:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Rett syndrome - Classical
Observation 19:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Rett syndrome - Classical
Observation 20:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Rett syndrome - Classical
Observation 21:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 22:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 23:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 24:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 25:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 26:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 27:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 28:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 29:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 30:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 31:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 32:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 33:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 34:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 35:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 36:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 37:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 38:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 39:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Classical
Observation 40:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 41:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 42:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 43:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 44:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 45:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 46:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 47:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 48:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 49:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 50:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 51:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Congenital onset
Observation 52:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Not known
Comment on evidence:
Rett syndrome - Congenital onset
Observation 53:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Forme fruste
Observation 54:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 55:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 56:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 57:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 58:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 59:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 60:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 61:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: brain
Comment on evidence:
Rett syndrome - Not certain
Observation 62:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 63:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 64:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 65:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 66:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 67:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 68:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 69:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 70:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 71:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 72:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 73:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 74:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 75:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 76:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 77:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Atypical
Observation 78:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Atypical
Observation 79:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 80:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 81:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 82:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 83:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 84:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not certain
Comment on evidence:
Rett syndrome - atypical
Observation 85:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not certain
Comment on evidence:
Rett syndrome - classical
Observation 86:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 87:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 88:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 89:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 90:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 91:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 92:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 93:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 94:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 95:
Number of individuals with the variant: 1
Sex: female
Tissue: lymphocytes
Comment on evidence:
Rett syndrome - Classical
Observation 96:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 97:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 98:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - classical
Observation 99:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - classical
Observation 100:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - classical
Observation 101:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood or fibroblasts
Comment on evidence:
Rett syndrome - classical
Observation 102:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 103:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: NK
Comment on evidence:
Rett syndrome - classical
Observation 104:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 105:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 106:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 107:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 108:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 109:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 110:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 111:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 112:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 113:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 114:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 115:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 116:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 117:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - classical
Observation 118:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 119:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 120:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - atypical
Observation 121:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 122:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 123:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 124:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 125:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 126:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 127:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 128:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 129:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 130:
Number of individuals with the variant: 1
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 131:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 132:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 133:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 134:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 135:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 136:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 137:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 138:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 139:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 140:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Classical
Observation 141:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 142:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 143:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 144:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 145:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 146:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 147:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 148:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 149:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 150:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 151:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 152:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 153:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 154:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 155:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Atypical
Observation 156:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 157:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 158:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 159:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 160:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 161:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 162:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 163:
Number of individuals with the variant: 1
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 164:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 165:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 166:
Number of individuals with the variant: 1
Family history: No
Sex: female
Comment on evidence:
Rett syndrome - Not certain
Observation 167:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 168:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 169:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 170:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 171:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 172:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 173:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 174:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 175:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 176:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - atypical
Observation 177:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 178:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 179:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 180:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 181:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 182:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 183:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 184:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 185:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 186:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 187:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Not certain
Observation 188:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 189:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 190:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 191:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 192:
Number of individuals with the variant: 1
Tissue: blood
Comment on evidence:
Rett syndrome - Not certain
Observation 193:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 194:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 195:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 196:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 197:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 198:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 199:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 200:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 201:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 202:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 203:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 204:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 205:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 206:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 207:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 208:
Number of individuals with the variant: 1
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 209:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 210:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 211:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 212:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 213:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 214:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 215:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 216:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: not known
Comment on evidence:
Rett syndrome - classical
Observation 217:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 218:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 219:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 220:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 221:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 222:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 223:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 224:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 225:
Number of individuals with the variant: 1
Comment on evidence:
Rett syndrome - Not certain
Observation 226:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 227:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 228:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 229:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 230:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 231:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - Classical
Observation 232:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 233:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 234:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 235:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 236:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
Observation 237:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 238:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 239:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - not certain
Observation 240:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 241:
Number of individuals with the variant: 1
Family history: No
Tissue: Blood
Comment on evidence:
Rett syndrome - Not certain
Observation 242:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - Classical
Observation 243:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - atypical
Observation 244:
Number of individuals with the variant: 1
Family history: Yes
Sex: female
Tissue: Blood
Comment on evidence:
Rett syndrome - atypical
Observation 245:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 246:
Number of individuals with the variant: 1
Sex: female
Tissue: Blood or skin
Comment on evidence:
Rett syndrome - Classical
Observation 247:
Number of individuals with the variant: 1
Family history: No
Sex: female
Tissue: blood
Comment on evidence:
Rett syndrome - classical
|
|
Pathogenic
(Oct 01, 2014)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: yes, unknown
Allele origin:
germline
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
Accession: SCV000257514.1
First in ClinVar: Dec 17, 2015 Last updated: Dec 17, 2015 |
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Hypotonia (present) , Truncal ataxia (present)
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Microcephaly (present) , CP (present) , Hand-wringing (present)
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: yes
Allele origin:
germline
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
Accession: SCV000537794.1
First in ClinVar: Mar 25, 2017 Last updated: Mar 25, 2017 |
|
|
Pathogenic
(Apr 03, 2015)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Additional submitter:
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000804257.1
First in ClinVar: Sep 01, 2018 Last updated: Sep 01, 2018 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956527.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: case-control
|
Rett syndrome
Affected status: unknown
Allele origin:
de novo
|
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital
Accession: SCV002060984.1
First in ClinVar: Jan 22, 2022 Last updated: Jan 22, 2022 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Rett syndrome
Affected status: unknown
Allele origin:
de novo
|
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University
Accession: SCV003840178.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: research
|
Autism
Affected status: yes
Allele origin:
de novo
|
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health
Accession: SCV005200212.1
First in ClinVar: Sep 01, 2024 Last updated: Sep 01, 2024 |
Comment:
Known mutation in known disease gene
Sex: female
Segregation observed: no
Method: Sanger sequencing
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Rett syndrome
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000998925.2
First in ClinVar: Nov 17, 2019 Last updated: Oct 01, 2022 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. | Pitcher MR | Human molecular genetics | 2015 | PMID: 25634563 |
Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study | Nature | 2015 | PMID: 25533962 |
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). | Maortua H | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23810759 |
Pubertal trajectory in females with Rett syndrome: a population-based study. | Knight O | Brain & development | 2013 | PMID: 23270700 |
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. | Das DK | Gene | 2013 | PMID: 23262346 |
MeCP2 deficiency is associated with impaired microtubule stability. | Delépine C | FEBS letters | 2013 | PMID: 23238081 |
Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. | Todorov T | Mutation research | 2012 | PMID: 22525432 |
Genetic and epileptic features in Rett syndrome. | Kim HJ | Yonsei medical journal | 2012 | PMID: 22476991 |
Molecular diagnostic dilemmas in Rett syndrome. | Zvereff V | Brain & development | 2012 | PMID: 22277191 |
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders. | Psoni S | Brain & development | 2012 | PMID: 21982064 |
Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. | Corbani S | Journal of intellectual disability research : JIDR | 2012 | PMID: 21954873 |
A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene. | Fendri-Kriaa N | Biochemical and biophysical research communications | 2011 | PMID: 21575601 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. | Monnerat LS | Brain & development | 2010 | PMID: 20031356 |
Genotype-phenotype correlation in Brazillian Rett syndrome patients. | Lima FT | Arquivos de neuro-psiquiatria | 2009 | PMID: 19722030 |
Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. | Raizis AM | The New Zealand medical journal | 2009 | PMID: 19652677 |
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. | Bebbington A | Neurology | 2008 | PMID: 18332345 |
Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. | Wong VC | Journal of child neurology | 2007 | PMID: 18174559 |
Rett syndrome: North American database. | Percy AK | Journal of child neurology | 2007 | PMID: 18174548 |
MECP2 mutations in Serbian Rett syndrome patients. | Djarmati A | Acta neurologica Scandinavica | 2007 | PMID: 17986102 |
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. | Zahorakova D | Journal of human genetics | 2007 | PMID: 17387578 |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. | Li MR | Journal of human genetics | 2007 | PMID: 17089071 |
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. | Donzel-Javouhey A | American journal of medical genetics. Part A | 2006 | PMID: 16763963 |
Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome. | Kim IJ | Experimental & molecular medicine | 2006 | PMID: 16672765 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. | Philippe C | European journal of medical genetics | 2006 | PMID: 16473305 |
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. | Archer HL | Journal of medical genetics | 2006 | PMID: 16183801 |
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. | Fukuda T | Brain & development | 2005 | PMID: 15737703 |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. | Chae JH | Journal of child neurology | 2004 | PMID: 15526954 |
Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients. | Kárteszi J | American journal of medical genetics. Part A | 2004 | PMID: 15389714 |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. | Kammoun F | Journal of medical genetics | 2004 | PMID: 15173251 |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. | Schanen C | American journal of medical genetics. Part A | 2004 | PMID: 15057977 |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. | Miltenberger-Miltenyi G | Human mutation | 2003 | PMID: 12872250 |
Mutation analysis of the MECP2 gene in patients with Rett syndrome. | Conforti FL | American journal of medical genetics. Part A | 2003 | PMID: 12567420 |
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. | Yaron Y | Human mutation | 2002 | PMID: 12325033 |
Spectrum of MECP2 mutations in Rett syndrome. | Bienvenu T | Genetic testing | 2002 | PMID: 12180070 |
MECP2 gene mutation analysis in Chinese patients with Rett syndrome. | Pan H | European journal of human genetics : EJHG | 2002 | PMID: 12111643 |
Prenatal diagnosis in Rett syndrome. | Armstrong J | Fetal diagnosis and therapy | 2002 | PMID: 12065946 |
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. | Chae JH | Journal of child neurology | 2002 | PMID: 11913567 |
Mutation analysis in Rett syndrome. | Milunsky JM | Genetic testing | 2001 | PMID: 11960578 |
Rett syndrome in Spain: mutation analysis and clinical correlations. | Monrós E | Brain & development | 2001 | PMID: 11738885 |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. | Giunti L | Brain & development | 2001 | PMID: 11738883 |
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. | Yamada Y | Human mutation | 2001 | PMID: 11524741 |
DHPLC analysis of the MECP2 gene in Italian Rett patients. | Nicolao P | Human mutation | 2001 | PMID: 11462237 |
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. | Ellaway CJ | Clinical dysmorphology | 2001 | PMID: 11446411 |
Parental origin of de novo MECP2 mutations in Rett syndrome. | Girard M | European journal of human genetics : EJHG | 2001 | PMID: 11313764 |
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. | Nielsen JB | European journal of human genetics : EJHG | 2001 | PMID: 11313756 |
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. | Trappe R | American journal of human genetics | 2001 | PMID: 11309679 |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. | Vacca M | Journal of molecular medicine (Berlin, Germany) | 2001 | PMID: 11269512 |
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. | Auranen M | Neurology | 2001 | PMID: 11245712 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions. | Laccone F | Human mutation | 2001 | PMID: 11241840 |
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. | Imessaoudene B | Journal of medical genetics | 2001 | PMID: 11238684 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. | Bourdon V | Human genetics | 2001 | PMID: 11214906 |
Functional consequences of Rett syndrome mutations on human MeCP2. | Yusufzai TM | Nucleic acids research | 2000 | PMID: 11058114 |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. | Buyse IM | American journal of human genetics | 2000 | PMID: 11055898 |
MECP2 mutation in male patients with non-specific X-linked mental retardation. | Orrico A | FEBS letters | 2000 | PMID: 11007980 |
Preserved speech variant is allelic of classic Rett syndrome. | De Bona C | European journal of human genetics : EJHG | 2000 | PMID: 10854091 |
MECP2 mutations account for most cases of typical forms of Rett syndrome. | Bienvenu T | Human molecular genetics | 2000 | PMID: 10814719 |
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | Huppke P | Human molecular genetics | 2000 | PMID: 10814718 |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | Cheadle JP | Human molecular genetics | 2000 | PMID: 10767337 |
Mutation screening in Rett syndrome patients. | Xiang F | Journal of medical genetics | 2000 | PMID: 10745042 |
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. | Wan M | American journal of human genetics | 1999 | PMID: 10577905 |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. | Amir RE | Nature genetics | 1999 | PMID: 10508514 |
[Technic of the entire cochleogram for the study of the cochlea in guinea pigs]. | Crifò S | Bollettino della Societa italiana di biologia sperimentale | 1975 | PMID: 1241840 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MECP2 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/437e53ca-400a-4f59-bd40-61898803b32b | - | - | - | - |
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Text-mined citations for rs61749721 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.