ClinVar Genomic variation as it relates to human health
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
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.
Uncertain significance(5); Benign(4); Likely benign(7)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
Variation ID: 178157 Accession: VCV000178157.81
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 2q31.2 2: 178534344 (GRCh38) [ NCBI UCSC ] 2: 179399071 (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 Jan 31, 2015 May 1, 2024 Jan 31, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001267550.2:c.102271C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001254479.2:p.Arg34091Trp missense NM_001256850.1:c.97348C>T NP_001243779.1:p.Arg32450Trp missense NM_003319.4:c.75076C>T NP_003310.4:p.Arg25026Trp missense NM_133378.4:c.94567C>T NP_596869.4:p.Arg31523Trp missense NM_133432.3:c.75451C>T NP_597676.3:p.Arg25151Trp missense NM_133437.4:c.75652C>T NP_597681.4:p.Arg25218Trp missense NC_000002.12:g.178534344G>A NC_000002.11:g.179399071G>A NG_011618.3:g.301459C>T NG_051363.1:g.16518G>A LRG_391:g.301459C>T LRG_391t1:c.102271C>T LRG_391p1:p.Arg34091Trp - Protein change
- R31523W, R34091W, R32450W, R25026W, R25151W, R25218W
- Other names
- p.R32450W:CGG>TGG
- Q8WZ42.4:p.Arg32450Trp
- Canonical SPDI
- NC_000002.12:178534343: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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0.00080 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00062
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00095
Exome Aggregation Consortium (ExAC) 0.00101
The Genome Aggregation Database (gnomAD), exomes 0.00105
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00107
Trans-Omics for Precision Medicine (TOPMed) 0.00111
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
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. |
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TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11721 | 31198 | |
TTN-AS1 | - | - | - | GRCh38 | - | 17876 |
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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Benign (2) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000119019.15 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Jun 21, 2021 | RCV000154875.22 | |
Benign (2) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000509179.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Nov 21, 2019 | RCV000621822.12 | |
Conflicting interpretations of pathogenicity (7) |
criteria provided, conflicting classifications
|
Dec 1, 2021 | RCV000713953.36 | |
Likely benign (1) |
criteria provided, single submitter
|
Jul 3, 2018 | RCV000852776.9 | |
Likely benign (1) |
criteria provided, single submitter
|
Jan 31, 2024 | RCV001086721.16 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV001134221.12 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV001134222.12 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV001134223.12 | |
Benign (1) |
criteria provided, single submitter
|
Jun 8, 2020 | RCV001798505.10 | |
Likely benign (1) |
criteria provided, single submitter
|
Sep 22, 2020 | RCV003945222.1 | |
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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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Uncertain significance
(Sep 14, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000229375.5
First in ClinVar: Jun 29, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 16
Sex: mixed
|
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Benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Myopathy, myofibrillar, 9, with early respiratory failure
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001293955.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. (less)
|
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Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Early-onset myopathy with fatal cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001293954.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
|
Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Autosomal recessive limb-girdle muscular dystrophy type 2J
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001293956.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
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Benign
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Tibial muscular dystrophy
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001293957.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. (less)
|
|
Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Dilated cardiomyopathy 1G
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001293958.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
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Benign
(Jun 29, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics
Accession: SCV000844602.3
First in ClinVar: Oct 20, 2018 Last updated: Jan 26, 2021 |
|
|
Likely benign
(Jun 21, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001748673.1
First in ClinVar: Jul 10, 2021 Last updated: Jul 10, 2021 |
Comment:
Variant summary: TTN c.94567C>T (p.Arg31523Trp) results in a non-conservative amino acid change located in the M-band domain of the encoded protein sequence. Three of four … (more)
Variant summary: TTN c.94567C>T (p.Arg31523Trp) results in a non-conservative amino acid change located in the M-band domain of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0011 in 247286 control chromosomes, predominantly at a frequency of 0.0015 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 3.84 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Dilated Cardiomyopathy phenotype (0.00039), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. c.94567C>T was initially reported to segregate with disease in two families with hereditary myopathy with early respiratory failure (HMERF; Lange_2005). However, subsequent reports have reported a missense mutation in the fibronectin-like FN3 119 domain of A-band titin in several Swedish families with HMERF (Ohlsson et al., 2012) including the patients reported in Lange_2005, which suggests the second mutation as the likely candidate for pathogenicity in the two initial families reported (Hedberg_2014). One publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Lange_2005). Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Six labs classified the variant as likely benign/benign while three classified as VUS. Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Benign
(Jun 08, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiomyopathy
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043110.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
|
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Likely benign
(Aug 20, 2020)
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criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000236911.7
First in ClinVar: Jan 31, 2015 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 24055113, 24231549, 15802564, 24569025, 23514108, 23446887, 24625729, 26272908, 23486992, 24271327, 24578547, 28009443, 28256728, 27194543, 23861362, 33232181)
|
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Likely benign
(Sep 22, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
TTN-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004760616.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
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Uncertain significance
(Dec 01, 2021)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001962319.14
First in ClinVar: Oct 08, 2021 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 3
|
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Likely benign
(Nov 21, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000735076.5
First in ClinVar: Apr 14, 2018 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Likely benign
(Jun 05, 2017)
|
criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000204557.5
First in ClinVar: Jan 31, 2015 Last updated: Dec 15, 2018 |
Comment:
p.Arg31523Trp in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (33/10126) of Ashkenazi … (more)
p.Arg31523Trp in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.3% (33/10126) of Ashkenazi Jewi sh chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org/; dbSNP rs140319117). (less)
Number of individuals with the variant: 3
|
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Likely benign
(Jul 03, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Heart failure
Dilated cardiomyopathy
Affected status: yes
Allele origin:
germline
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
Accession: SCV000995499.1
First in ClinVar: Oct 12, 2019 Last updated: Oct 12, 2019 |
Number of individuals with the variant: 4
|
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Likely benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000555083.9
First in ClinVar: Apr 17, 2017 Last updated: Feb 28, 2024 |
|
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Uncertain significance
(Feb 27, 2014)
|
no assertion criteria provided
Method: literature only
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Hereditary myopathy with early respiratory failure
Affected status: yes
Allele origin:
germline
|
GeneReviews
Accession: SCV000153721.2
First in ClinVar: May 31, 2014 Last updated: Mar 24, 2015 |
|
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Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744916.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001924228.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
|
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Likely benign
(-)
|
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: SCV001927038.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
|
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Likely benign
(-)
|
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: SCV001952059.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
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Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001968772.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
|
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not provided
(-)
|
no classification provided
Method: phenotyping only
|
Tibial muscular dystrophy
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect, ClinGen
Accession: SCV000607067.1
First in ClinVar: Oct 16, 2017 Last updated: Oct 16, 2017 |
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Failure to thrive (present) , Short stature (present) , Abnormality of movement (present) , Generalized hypotonia (present) , Abnormality of coordination (present) , Cognitive impairment … (more)
Failure to thrive (present) , Short stature (present) , Abnormality of movement (present) , Generalized hypotonia (present) , Abnormality of coordination (present) , Cognitive impairment (present) , Stereotypy (present) , Abnormality of the musculature of the limbs (present) , Abnormality of muscle physiology (present) , Abnormality of the large intestine (present) , Feeding difficulties (present) , Recurrent infections (present) (less)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: female
Testing laboratory: Baylor Genetics
Date variant was reported to submitter: 2012-06-27
Testing laboratory interpretation: Uncertain significance
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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 |
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Hereditary Myopathy with Early Respiratory Failure. | Adam MP | - | 2022 | PMID: 24575448 |
Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. | Tasca G | Neuromuscular disorders : NMD | 2018 | PMID: 29361395 |
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing. | Cerino M | Muscle & nerve | 2017 | PMID: 28256728 |
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. | Medeiros-Domingo A | Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2017 | PMID: 27194543 |
Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood. | Santori M | Archives of disease in childhood | 2015 | PMID: 26272908 |
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. | Pfeffer G | Brain : a journal of neurology | 2014 | PMID: 24578547 |
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. | Lange S | Brain : a journal of neurology | 2014 | PMID: 24569025 |
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. | Pfeffer G | Brain : a journal of neurology | 2014 | PMID: 24271327 |
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. | Hedberg C | Brain : a journal of neurology | 2014 | PMID: 24231549 |
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. | Pfeffer G | Journal of neurology, neurosurgery, and psychiatry | 2014 | PMID: 23486992 |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
Interpreting secondary cardiac disease variants in an exome cohort. | Ng D | Circulation. Cardiovascular genetics | 2013 | PMID: 23861362 |
The kinase domain of titin controls muscle gene expression and protein turnover. | Lange S | Science (New York, N.Y.) | 2005 | PMID: 15802564 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TTN | - | - | - | - |
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Text-mined citations for rs140319117 ...
HelpRecord last updated May 08, 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.