ClinVar Genomic variation as it relates to human health
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
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_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
Variation ID: 12414 Accession: VCV000012414.34
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q32.1 1: 201364336 (GRCh38) [ NCBI UCSC ] 1: 201333464 (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 4, 2013 Apr 20, 2024 Oct 30, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001276345.2:c.451C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001263274.1:p.Arg151Trp missense NM_000364.4:c.451C>T NP_000355.2:p.Arg151Trp missense NM_001001430.3:c.421C>T NP_001001430.1:p.Arg141Trp missense NM_001001431.3:c.421C>T NP_001001431.1:p.Arg141Trp missense NM_001001432.3:c.406C>T NP_001001432.1:p.Arg136Trp missense NM_001276345.1:c.451C>T NM_001276346.2:c.331C>T NP_001263275.1:p.Arg111Trp missense NM_001276347.2:c.421C>T NP_001263276.1:p.Arg141Trp missense NC_000001.11:g.201364336G>A NC_000001.10:g.201333464G>A NG_007556.1:g.18342C>T LRG_431:g.18342C>T LRG_431t1:c.451C>T LRG_431p1:p.Arg151Trp P45379:p.Arg151Trp - Protein change
- R141W, R151W, R111W, R136W
- Other names
- p.R141W:CGG>TGG
- Canonical SPDI
- NC_000001.11:201364335: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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0.00060 (T)
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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
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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TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
946 | 964 |
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 (4) |
criteria provided, multiple submitters, no conflicts
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Apr 11, 2023 | RCV000013225.33 | |
Pathogenic (1) |
no assertion criteria provided
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Aug 4, 2014 | RCV000157537.1 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jan 23, 2023 | RCV000159296.14 | |
Pathogenic (1) |
criteria provided, single submitter
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May 12, 2015 | RCV000211866.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 17, 2023 | RCV000524542.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 20, 2018 | RCV000710045.1 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jun 23, 2023 | RCV001375512.2 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Oct 30, 2023 | RCV003450628.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 11, 2023 | RCV003450629.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 23, 2021 | RCV003225021.1 |
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. |
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Pathogenic
(Dec 12, 2016)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000703511.2
First in ClinVar: Dec 26, 2017 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Pathogenic
(Apr 15, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001572362.1
First in ClinVar: Apr 30, 2021 Last updated: Apr 30, 2021 |
Comment:
Variant summary: TNNT2 c.421C>T (p.Arg141Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging … (more)
Variant summary: TNNT2 c.421C>T (p.Arg141Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250316 control chromosomes. c.421C>T has been reported in the literature in multiple individuals affected with Cardiomyopathy (e.g. Li_2001, Millart_2011, Alfares_2015, Long_2015, Walsh_2016). These data indicate that the variant is very likely to be associated with disease. In a large multi-generational family study, the variant was detected in at least 14 affected family members, although several unaffected individuals also carried the variant, suggesting incomplete penetrance (e.g. Li_2001). The variant has also been reported as a de-novo mutation in an individual with sporadic disease (e.g. Long_2015). Multiple publications report in-vitro or in-vivo experimental evidence that the variant results in calcium desensitization in cardiac muscle fibers (e.g. Lu_2003, Mirza_2005, Gollapudi_2015). Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 23, 2023)
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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: SCV000209242.13
First in ClinVar: Feb 24, 2015 Last updated: Nov 11, 2023 |
Comment:
Affects cardiac muscle contractile dynamics by decreasing Ca2+ sensitivity of activation, reducing affinity of Ca2+ binding in the troponin complex, and/or increasing the rate of … (more)
Affects cardiac muscle contractile dynamics by decreasing Ca2+ sensitivity of activation, reducing affinity of Ca2+ binding in the troponin complex, and/or increasing the rate of Ca2+ dissociation from the thin filament (Lu et al., 2003; Mirza et al., 2005; Venkatraman et al., 2005; Robinson et al., 2007; Liu et al., 2012; Sommese et al., 2013; Memo et al., 2013; Gollapudi et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24367593, 28166811, 24992688, 25611685, 33336002, 34935411, 25681424, 23539503, 17932326, 12923187, 15623536, 11684629, 15923195, 22675533, 21846512, 15769782, 27936050, 27532257, 24503780, 21310275, 26656454, no PMID, 33025817, 34540771, 33906374, 32746448, 32758068, 34076677, 35288587, 14654368, 18606313) (less)
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Pathogenic
(Apr 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 2
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV004181377.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Pathogenic
(Apr 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1D
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV004181375.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Pathogenic
(Apr 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy, familial restrictive, 3
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV004181376.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Pathogenic
(Jun 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV004239777.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1D
Affected status: yes
Allele origin:
germline
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Center for Medical Genetics Ghent, University of Ghent
Accession: SCV000299243.1
First in ClinVar: Sep 09, 2016 Last updated: Sep 09, 2016 |
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Pathogenic
(Apr 20, 2018)
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criteria provided, single submitter
Method: clinical testing
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Familial isolated dilated cardiomyopathy
Affected status: yes
Allele origin:
de novo
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Center of Genomic medicine, Geneva, University Hospital of Geneva
Accession: SCV000840422.1
First in ClinVar: Oct 19, 2018 Last updated: Oct 19, 2018 |
Number of individuals with the variant: 1
Age: 10-19 years
Sex: female
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Pathogenic
(May 12, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Primary dilated cardiomyopathy (Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000203869.5
First in ClinVar: Jan 31, 2015 Last updated: Jun 05, 2016 |
Comment:
The p.Arg141Trp variant in TNNT2 has been reported in 3 individuals with DCM and segregated with disease in 16 affected relative from 2 families (Li … (more)
The p.Arg141Trp variant in TNNT2 has been reported in 3 individuals with DCM and segregated with disease in 16 affected relative from 2 families (Li 2001, Villa rd 2005) Additionally, the variant occurred de novo in 1 individual with LVNC (K laassan 2008). This variant has also been identified by our laboratory in 10 ind ividuals with cardiomyopathy, most of whom were diagnosed with DCM at very young ages (<10 years), segregated with disease in 1 affected relative, and occurred de novo in 1 individual. This variant was absent from large population studies. In vitro functional studies provide some evidence that the p.Arg141Trp variant m ay impact protein function (Lu 2003, Venkatraman 2003, Venkatraman 2005, Mirza 2 005, Robinson 2007, Liu 2012, Memo 2013, Sommerse 2013). In summary, this varian t meets our criteria to be classified as pathogenic for DCM in an autosomal domi nant manner (http://www.partners.org/personalizedmedicine/LMM) based upon segreg ation studies, absence from controls, and functional evidence. (less)
Number of individuals with the variant: 12
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Pathogenic
(Mar 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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TNNT2 -related cardiomyopathies
Affected status: yes
Allele origin:
de novo
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Accession: SCV003921976.1
First in ClinVar: May 06, 2023 Last updated: May 06, 2023 |
Comment:
0103 - Dominant negative and gain of function are reported mechanisms of disease in this gene and is associated with TNNT2-related cardiomyopathies (PMID: 18612386). 0107 … (more)
0103 - Dominant negative and gain of function are reported mechanisms of disease in this gene and is associated with TNNT2-related cardiomyopathies (PMID: 18612386). 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to tryptophan. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2) (2 heterozygotes, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated troponin domain (NCBI, PDB). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. The variant has previously been reported as pathogenic in multiple patients with TNNT2-related cardiomyopathies, and is often annotated as p.(R141W) using an alternative transcript. It has been reported as de novo in some individuals, and has also been observed to segregate with the disease in families (ClinVar, PMID: 26656454). (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)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1D
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004048125.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The missense variant c.451C>T (p.Arg151Trp) in TNNT2 gene has been reported in individuals and families affected with dilated cardiomyopathy (Li D et.al.,2001). This variant has … (more)
The missense variant c.451C>T (p.Arg151Trp) in TNNT2 gene has been reported in individuals and families affected with dilated cardiomyopathy (Li D et.al.,2001). This variant has been reported to the ClinVar database as Pathogenic .The p.Arg151Trp variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 151 is changed to a Trp changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Arg151Trp in TNNT2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Pathogenic . (less)
Clinical Features:
Recurrent upper respiratory tract infections (present)
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Pathogenic
(Aug 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy, familial restrictive, 3
Hypertrophic cardiomyopathy 2 Dilated cardiomyopathy 1D
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
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Invitae
Accession: SCV000285650.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 141 of the TNNT2 protein … (more)
This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 141 of the TNNT2 protein (p.Arg141Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dilated cardiomyopathy (DCM), segregating with the disease in two multigenerational families (PMID: 11684629, 15769782, 21846512, 24992688, 26656454). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12414). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TNNT2 protein function. Experimental studies have shown that this missense change affects TNNT2 function (PMID: 14654368, 18349139, 18606313, 23539503, 24367593). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 2
Affected status: no
Allele origin:
unknown
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Genomic Medicine Lab, University of California San Francisco
Accession: SCV004847127.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
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Pathogenic
(Aug 04, 2014)
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no assertion criteria provided
Method: clinical testing
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Primary dilated cardiomyopathy
Affected status: yes
Allele origin:
germline
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Blueprint Genetics
Accession: SCV000207283.1
First in ClinVar: Feb 06, 2015 Last updated: Feb 06, 2015 |
Number of individuals with the variant: 1
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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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: SCV001973668.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(Oct 30, 2001)
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no assertion criteria provided
Method: literature only
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CARDIOMYOPATHY, DILATED, 1D
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033472.2
First in ClinVar: Apr 04, 2013 Last updated: Mar 18, 2023 |
Comment on evidence:
Li et al. (2001) found a C-to-T transition at nucleotide position 471 of the TNNT2 gene, which was predicted to change the highly conserved basic … (more)
Li et al. (2001) found a C-to-T transition at nucleotide position 471 of the TNNT2 gene, which was predicted to change the highly conserved basic amino acid arginine at residue 141 to the polar-neutral tryptophan (arg141 to trp; R141W). This sequence change cosegregated with dilated cardiomyopathy (CMD1D; 601494) in the family, with 5 phenotypically normal mutation carriers in addition to 14 affected individuals. Evaluation of 200 control chromosomes and 219 individuals with familial hypertrophic cardiomyopathy failed to detect the variation, leading the authors to conclude that this was a pathogenic mutation. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001741499.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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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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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. | Long PA | Journal of the American Heart Association | 2015 | PMID: 26656454 |
The functional effect of dilated cardiomyopathy mutation (R144W) in mouse cardiac troponin T is differently affected by α- and β-myosin heavy chain isoforms. | Gollapudi SK | American journal of physiology. Heart and circulatory physiology | 2015 | PMID: 25681424 |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | Alfares AA | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25611685 |
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). | Rani DS | PloS one | 2014 | PMID: 24992688 |
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. | Sommese RF | PloS one | 2013 | PMID: 24367593 |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. | Memo M | Cardiovascular research | 2013 | PMID: 23539503 |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. | Liu B | PloS one | 2012 | PMID: 22675533 |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. | Millat G | European journal of medical genetics | 2011 | PMID: 21846512 |
[Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. | Chen B | Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition | 2008 | PMID: 19253838 |
The changes of the cardiac structure and function in cTnTR141W transgenic mice. | Juan F | International journal of cardiology | 2008 | PMID: 18606313 |
Mutations in sarcomere protein genes in left ventricular noncompaction. | Klaassen S | Circulation | 2008 | PMID: 18506004 |
Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. | Lombardi R | Cardiovascular research | 2008 | PMID: 18349139 |
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. | Robinson P | Circulation research | 2007 | PMID: 17932326 |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. | Mirza M | The Journal of biological chemistry | 2005 | PMID: 15923195 |
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. | Villard E | European heart journal | 2005 | PMID: 15769782 |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. | Venkatraman G | The Journal of biological chemistry | 2005 | PMID: 15623536 |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. | Lu QW | Journal of molecular and cellular cardiology | 2003 | PMID: 14654368 |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy. | Venkatraman G | The Journal of biological chemistry | 2003 | PMID: 12923187 |
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. | Li D | Circulation | 2001 | PMID: 11684629 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TNNT2 | - | - | - | - |
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Text-mined citations for rs74315379 ...
HelpRecord last updated Apr 20, 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.