The c.3718C>T (p.R1240*) alteration, located in exon 17 (coding exon 17) of the SYNGAP1 gene, consists of a C to T substitution at nucleotide position 3718. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 1240. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple individuals with features consistent with SYNGAP1-related neurodevelopmental disorder, including multiple cases of reported de novo occurrence (Jang, 2019; Jimenez-Gomez, 2019; Truty, 2019; Vlaskamp, 2019; Bruno, 2021; Layne, 2022). One publication showed that the p.R1240* alteration retained 88% of wildtype protein stability and localized to aberrant, smaller cytoplasmic speckles compared to the wildtype (Meili, 2021). Another publication demonstrated that human induced pluripotent stem cell-derived neurons with this alteration exhibited a significant reduction in SYNGAP1 mRNA and protein compared to control lines (Dawicki-McKenna, 2023). Based on the available evidence, this alteration is classified as pathogenic.
ClinVar Genomic variation as it relates to human health
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
Germline
Classification
Help
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.
(11)
Help
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.
Pathogenic
11
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
Variation ID: 225077 Accession: VCV000225077.19
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 6p21.32 6: 33446710 (GRCh38) [ NCBI UCSC ] 6: 33414487 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Dec 19, 2017 Aug 25, 2024 Dec 21, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_006772.3:c.3718C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_006763.2:p.Arg1240Ter nonsense NM_001130066.2:c.3670C>T NP_001123538.1:p.Arg1224Ter nonsense NC_000006.12:g.33446710C>T NC_000006.11:g.33414487C>T NG_016137.2:g.31641C>T LRG_1193:g.31641C>T LRG_1193t1:c.3718C>T LRG_1193p1:p.Arg1240Ter - Protein change
- R1240*, R1224*
- Other names
- -
- Canonical SPDI
- NC_000006.12:33446709:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
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 | ||
|---|---|---|---|---|---|---|
| HI score
Help
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. |
|||
| SYNGAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
335 | 1603 | |
| SYNGAP1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 1252 |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Aug 31, 2023 | RCV000210697.6 | |
| Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Dec 21, 2023 | RCV000679896.14 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Mar 27, 2023 | RCV000760502.5 | |
| Pathogenic (1) |
no assertion criteria provided
|
Nov 18, 2014 | RCV001265530.1 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Aug 31, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000262979.7
First in ClinVar: Apr 09, 2016 Last updated: May 01, 2024 |
Comment:
The c.3718C>T (p.R1240*) alteration, located in exon 17 (coding exon 17) of the SYNGAP1 gene, consists of a C to T substitution at nucleotide position … (more)
The c.3718C>T (p.R1240*) alteration, located in exon 17 (coding exon 17) of the SYNGAP1 gene, consists of a C to T substitution at nucleotide position 3718. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 1240. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple individuals with features consistent with SYNGAP1-related neurodevelopmental disorder, including multiple cases of reported de novo occurrence (Jang, 2019; Jimenez-Gomez, 2019; Truty, 2019; Vlaskamp, 2019; Bruno, 2021; Layne, 2022). One publication showed that the p.R1240* alteration retained 88% of wildtype protein stability and localized to aberrant, smaller cytoplasmic speckles compared to the wildtype (Meili, 2021). Another publication demonstrated that human induced pluripotent stem cell-derived neurons with this alteration exhibited a significant reduction in SYNGAP1 mRNA and protein compared to control lines (Dawicki-McKenna, 2023). Based on the available evidence, this alteration is classified as pathogenic. (less)
|
|
|
Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 5
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893717.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
|
Pathogenic
(Oct 05, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 5
Affected status: yes
Allele origin:
unknown
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV001976803.1
First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
Comment:
PVS1, PM2, PP3, PP5
|
|
|
Pathogenic
(Sep 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 5
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000812402.3
First in ClinVar: Oct 10, 2018 Last updated: May 16, 2022 |
|
|
|
Pathogenic
(Sep 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 5
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Baylor Genetics
Accession: SCV000807319.2
First in ClinVar: Sep 17, 2018 Last updated: Dec 11, 2022 |
Comment:
This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 4-year-old male … (more)
This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 4-year-old male with global delays & mild hypotonia. (less)
|
|
|
Pathogenic
(Feb 08, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000890393.4
First in ClinVar: Mar 19, 2019 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26795593, 25356970, 30541864, 30455457, 31395010, 28191889, 33308442) (less)
|
|
|
Pathogenic
(Dec 12, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 5
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV004242428.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP
Clinical Features:
Cerebellar ataxia (present) , Atypical absence seizure (present) , Intellectual disability (present) , Atypical behavior (present)
Sex: female
|
|
|
Pathogenic
(Dec 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Intellectual disability, autosomal dominant 5
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV005086082.1
First in ClinVar: Jul 23, 2024 Last updated: Jul 23, 2024 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with intellectual developmental disorder, autosomal dominant 5 (MIM#612621). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. (DECIPHER) (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported six times as likely pathogenic and pathogenic (ClinVar), and at least twice as de novo. Affected individuals included a child with developmental delay and gait disturbance (PMID: 35814954), a de novo case with epilepsy (PMID: 31572294), and another individual with epilepsy and severe developmental impairment (PMID:31395010). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
|
|
|
Pathogenic
(Mar 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005198381.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
|
|
|
Pathogenic
(Nov 18, 2014)
|
no assertion criteria provided
Method: provider interpretation
|
Complex neurodevelopmental disorder
Affected status: yes
Allele origin:
de novo
|
GenomeConnect - Simons Searchlight
Accession: SCV001443674.1
First in ClinVar: Nov 21, 2020 Last updated: Nov 21, 2020 |
Comment:
Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2014-11-18 and interpreted as Pathogenic. Variant was initially … (more)
Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2014-11-18 and interpreted as Pathogenic. Variant was initially reported on 2012-12-06 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar. (less)
Clinical Features:
Premature birth (present) , Caesarian section (present) , Abnormality of vision (present) , Amblyopia (present) , Generalized hypotonia (present) , Hypertonia (present) , Seizure precipitated … (more)
Premature birth (present) , Caesarian section (present) , Abnormality of vision (present) , Amblyopia (present) , Generalized hypotonia (present) , Hypertonia (present) , Seizure precipitated by febrile infection (present) , Seizures (present) , Absence seizures (present) , Gastroesophageal reflux (present) , Otitis media (present) , Pneumonia (present) , Abnormality of the respiratory system (present) , Recurrent respiratory infections (present) , Allergy (present) , Drug allergy (present) , Allergic rhinitis (present) , Clumsiness (present) , Tics (present) , Abnormality of the skin (present) , Soft skin (present) , Autoimmunity (present) , Immunodeficiency (present) (less)
Age: 10-19 years
Sex: male
Testing laboratory: Baylor Genetics
Date variant was reported to submitter: 2012-12-06
Testing laboratory interpretation: Pathogenic
|
|
|
not provided
(-)
|
no classification provided
Method: phenotyping only
|
Intellectual disability, autosomal dominant 5
Affected status: yes
Allele origin:
de novo
|
GenomeConnect - Brain Gene Registry
Accession: SCV004804539.1
First in ClinVar: Mar 30, 2024 Last updated: Mar 30, 2024 |
Comment:
Variant classified as Pathogenic and reported on 12-06-2012 by Baylor College of Medicine. Assertions are reported exactly as they appear on the patient provided laboratory … (more)
Variant classified as Pathogenic and reported on 12-06-2012 by Baylor College of Medicine. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. (less)
Clinical Features:
Global developmental delay (present) , Hypotonia (present) , Delayed speech and language development (present)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: male
Method: Exome Sequencing
Testing laboratory: Baylor Genetics
Date variant was reported to submitter: 2012-12-06
Testing laboratory interpretation: Pathogenic
|
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Comment:
Comment:
PVS1, PM2, PP3, PP5
Comment:
This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 4-year-old male with global delays & mild hypotonia.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26795593, 25356970, 30541864, 30455457, 31395010, 28191889, 33308442)
Comment:
Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with intellectual developmental disorder, autosomal dominant 5 (MIM#612621). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. (DECIPHER) (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported six times as likely pathogenic and pathogenic (ClinVar), and at least twice as de novo. Affected individuals included a child with developmental delay and gait disturbance (PMID: 35814954), a de novo case with epilepsy (PMID: 31572294), and another individual with epilepsy and severe developmental impairment (PMID:31395010). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2014-11-18 and interpreted as Pathogenic. Variant was initially reported on 2012-12-06 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.
Comment:
Variant classified as Pathogenic and reported on 12-06-2012 by Baylor College of Medicine. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.
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. |
Comment:
The c.3718C>T (p.R1240*) alteration, located in exon 17 (coding exon 17) of the SYNGAP1 gene, consists of a C to T substitution at nucleotide position 3718. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 1240. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been reported in multiple individuals with features consistent with SYNGAP1-related neurodevelopmental disorder, including multiple cases of reported de novo occurrence (Jang, 2019; Jimenez-Gomez, 2019; Truty, 2019; Vlaskamp, 2019; Bruno, 2021; Layne, 2022). One publication showed that the p.R1240* alteration retained 88% of wildtype protein stability and localized to aberrant, smaller cytoplasmic speckles compared to the wildtype (Meili, 2021). Another publication demonstrated that human induced pluripotent stem cell-derived neurons with this alteration exhibited a significant reduction in SYNGAP1 mRNA and protein compared to control lines (Dawicki-McKenna, 2023). Based on the available evidence, this alteration is classified as pathogenic.
Comment:
PVS1, PM2, PP3, PP5
Comment:
This nonsense variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 4-year-old male with global delays & mild hypotonia.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26795593, 25356970, 30541864, 30455457, 31395010, 28191889, 33308442)
Comment:
Criteria applied: PVS1,PS2,PS4_MOD,PM2_SUP
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with intellectual developmental disorder, autosomal dominant 5 (MIM#612621). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. (DECIPHER) (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported six times as likely pathogenic and pathogenic (ClinVar), and at least twice as de novo. Affected individuals included a child with developmental delay and gait disturbance (PMID: 35814954), a de novo case with epilepsy (PMID: 31572294), and another individual with epilepsy and severe developmental impairment (PMID:31395010). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Comment:
Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2014-11-18 and interpreted as Pathogenic. Variant was initially reported on 2012-12-06 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.
Comment:
Variant classified as Pathogenic and reported on 12-06-2012 by Baylor College of Medicine. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching. | Dawicki-McKenna JM | Nature communications | 2023 | PMID: 37149717 |
| Comparison of Treadmill Gait Between a Pediatric-Aged Individual With SYNGAP1-Related Intellectual Disability and a Fraternal Twin. | Layne CS | Frontiers in human neuroscience | 2022 | PMID: 35814954 |
| New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing. | Bruno LP | International journal of molecular sciences | 2021 | PMID: 34948243 |
| Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability. | Meili F | American journal of human genetics | 2021 | PMID: 33308442 |
| Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life. | Jang SS | Frontiers in neurology | 2019 | PMID: 31572294 |
| Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. | Truty R | Epilepsia open | 2019 | PMID: 31440721 |
| Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression. | Jimenez-Gomez A | Journal of neurodevelopmental disorders | 2019 | PMID: 31395010 |
| SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. | Vlaskamp DRM | Neurology | 2019 | PMID: 30541864 |
Text-mined citations for rs869312955 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 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.