ClinVar Genomic variation as it relates to human health
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
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.305G>A (p.Arg102Gln)
Variation ID: 12409 Accession: VCV000012409.25
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q32.1 1: 201365297 (GRCh38) [ NCBI UCSC ] 1: 201334425 (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 Feb 28, 2024 Nov 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001276345.2:c.305G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001263274.1:p.Arg102Gln missense NM_000364.4:c.305G>A NP_000355.2:p.Arg102Gln missense NM_001001430.3:c.275G>A NP_001001430.1:p.Arg92Gln missense NM_001001431.3:c.275G>A NP_001001431.1:p.Arg92Gln missense NM_001001432.3:c.260G>A NP_001001432.1:p.Arg87Gln missense NM_001276346.2:c.291+313G>A intron variant NM_001276347.2:c.275G>A NP_001263276.1:p.Arg92Gln missense NC_000001.11:g.201365297C>T NC_000001.10:g.201334425C>T NG_007556.1:g.17381G>A LRG_431:g.17381G>A LRG_431t1:c.305G>A LRG_431p1:p.Arg102Gln - Protein change
- R92Q, R102Q, R87Q
- Other names
- p.R92Q:CGG>CAG
- Canonical SPDI
- NC_000001.11:201365296:C:T
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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.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
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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TNNT2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
898 | 916 |
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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Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Apr 11, 2023 | RCV000013220.26 | |
Pathogenic (4) |
criteria provided, single submitter
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May 25, 2022 | RCV000159281.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 10, 2018 | RCV000211865.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 7, 2022 | RCV000621709.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 15, 2023 | RCV000627784.8 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Apr 11, 2023 | RCV003450626.1 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Apr 11, 2023 | RCV003450625.1 |
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
(Jul 10, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic 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: SCV000060229.6
First in ClinVar: May 03, 2013 Last updated: Aug 26, 2019 |
Comment:
The p.Arg92Gln variant in TNNT2 has been reported in >15 individuals with HCM, i ncluding one de novo occurrence, and segregated with disease in >15 … (more)
The p.Arg92Gln variant in TNNT2 has been reported in >15 individuals with HCM, i ncluding one de novo occurrence, and segregated with disease in >15 affected rel atives (Thierfelder 1994, Watkins 1995, Morita 2008, Olivotto 2008, Strijack 200 8, Ripoll-Vera 2016, Walsh, 2017, LMM data). In addition, this was absent from l arge population studies. In vitro functional studies have shown that the Arg92Gl n variant impacts protein function (Marian 1997, Yanaga 1999, Robinson 2002, Liu 2012) and transgenic mice carrying this variant develop HCM (Chandar 2001, Ferr antini 2017). In summary, this variant meets criteria to be classified as pathog enic for HCM in an autosomal dominant manner based on case observations, segrega tion studies, absence from controls, and functional evidence. ACMG/AMP Criteria applied: PS3, PS4, PP1_Strong, PM2. (less)
Number of individuals with the variant: 8
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Pathogenic
(May 25, 2022)
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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: SCV000209227.13
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect as this variant impairs tropomyosin binding, calcium signaling, … (more)
Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate a damaging effect as this variant impairs tropomyosin binding, calcium signaling, and the myofibrillar assembly (Yanaga et al., 1999; Javadpour et al., 2003; Liu et al., 2012; Robinson et al., 2018; Cai et al., 2020); 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: 30847666, 26507537, 27036851, 29760186, 29725858, 33336002, 31308319, 28735292, 21131475, 12479243, 11158969, 17932326, 12186860, 10085122, 10617660, 10449439, 12952925, 19087273, 24691700, 22675533, 8205619, 18403758, 9788962, 21310275, 27532257, 30022097, 31006259, 31759053, 33673806, 30975432, 26582918, 33025817, 11857753) (less)
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Likely 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: SCV004181491.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Likely 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: SCV004181492.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Likely 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: SCV004181493.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Likely pathogenic
(Mar 08, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 2
Affected status: yes
Allele origin:
germline
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Center for Medical Genetics Ghent, University of Ghent
Accession: SCV000299242.2
First in ClinVar: Sep 09, 2016 Last updated: Aug 04, 2018 |
Comment:
This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to have an impact … (more)
This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to have an impact on protein function according to multiple prediction programs. In addition, the variant has been reported previously in individuals with HCM. Studies have shown that the variant impacts protein function (PMID:8205619). (less)
Sex: male
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Pathogenic
(Mar 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000735554.4
First in ClinVar: Apr 14, 2018 Last updated: Nov 29, 2022 |
Comment:
The p.R92Q pathogenic mutation (also known as c.275G>A), located in coding exon 8 of the TNNT2 gene, results from a G to A substitution at … (more)
The p.R92Q pathogenic mutation (also known as c.275G>A), located in coding exon 8 of the TNNT2 gene, results from a G to A substitution at nucleotide position 275. The arginine at codon 92 is replaced by glutamine, an amino acid with highly similar properties. This alteration (also described as p.R102Q, c.305G>A) has been reported in association with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and left ventricular non-compaction (LVNC) and has shown strong segregation with disease across several families (Thierfelder L, Cell 1994 Jun; 77(5):701-12; Watkins H, N. Engl. J. Med. 1995 Apr; 332(16):1058-64; Torricelli F, Am. J. Cardiol. 2003 Dec; 92(11):1358-62; Strijack B, J Cardiovasc Magn Reson 2008; 10():58; Lopes LR, Heart 2015 Feb; 101(4):294-301; Tian T, Heart Vessels 2015 Mar; 30(2):258-64; Ripoll-Vera T, Rev Esp Cardiol (EnglEd) 2016 Feb; 69(2):149-58). One study also demonstrated this alteration as a de novo mutation in a subject with HCM (Morita H, N. Engl. J. Med. 2008 May; 358(18):1899-908). Several studies have also shown that this alteration has an impact on protein function (Yanaga F, J. Biol. Chem. 1999 Mar; 274(13):8806-12; Palm T, Biophys. J. 2001 Nov; 81(5):2827-37; Robinson P, Circ. Res. 2007 Dec; 101(12):1266-73; Liu B, PLoS ONE 2012; 7(6):e38259). In addition, transgenic mouse models have shown this alteration causes hypercontractility and diastolic dysfunction (Tardiff JC, J. Clin. Invest. 1999 Aug; 104(4):469-81; Oberst L, J. Clin. Invest. 1998 Oct; 102(8):1498-505; Chandra M, Am. J. Physiol. Heart Circ. Physiol. 2001 Feb; 280(2):H705-13). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Nov 15, 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: SCV000285648.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 92 of the TNNT2 protein (p.Arg92Gln). … (more)
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 92 of the TNNT2 protein (p.Arg92Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy, left ventricular non-compaction, atypical pattern of myocardial scarring and/or inducible malignant ventricular tachyarrhythmia (PMID: 7898523, 8205619, 8951566, 18403758, 19087273, 19487599, 23233322, 24691700, 25524337). 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: 12409). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects TNNT2 function (PMID: 9788962, 10085122, 10449439, 11158969, 12186860). This variant disrupts the p.Arg92 amino acid residue in TNNT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9060892, 16326803, 22144547). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (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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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001917971.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(Jun 03, 1994)
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no assertion criteria provided
Method: literature only
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033467.2
First in ClinVar: Apr 04, 2013 Last updated: Mar 18, 2023 |
Comment on evidence:
In members of family BA with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) identified heterozygosity for … (more)
In members of family BA with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) identified heterozygosity for a 287G-A transition in the TNNT2 gene, changing codon 92 from CGG to CAG and predicting the replacement of a positively charged arginine with a neutral glutamine (R92Q). (less)
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Pathogenic
(Jan 16, 2012)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280516.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Based on the strong case data, strong segregation data, and mouse models, we consider it very likely disease causing. The variant has been seen in at least 8 unrelated cases of HCM (not including the patient) with good segregation data in one family and extensive functional data available—including in transgenic mouse models. In our own center we have seen this variant in at least three unrelated individuals with familial cardiomyopathy. Thierfelder et al. (1994) identified Arg92Gln in one HCM family; it segregated with disease in all 6 affected members (degree of relationship not reported; LOD score 4.1). Watkins et al. (1995) identified Arg92Gln in 3 unrelated HCM families. (LOD score 8.3.) Torricelli et al. (2003) identified it in an HCM case from Tuscany. Morita et al. (2008) found it had occurred de novo in a patient with HCM. Paternity was confirmed, and the parents were clinically unaffected. Two other mutations at the same codon have also been reported in families with HCM: p.Arg92Leu and p.Arg92Trp (we categorize both as very likely disease causing). Variation at nearby loci of TNNT2 (within 10 amino acids to either side) has been associated with disease, supporting the functional importance of this region of the protein. These HCM variants include Glu83Lys, Val85Leu, Asp86Ala, Arg94Leu, Arg94Cys, and Lys97Asn (Willott et al. 2010; Harvard Sarcomere Protein Gene Mutation Database). The region between residues ~80-180 of TNNT2 has been described as essential for anchoring the troponin-tropomyosin complex to the thin filament (Hinkle et al. 1999, Palm et al. 2001). Oberst et al. (1998) showed transgenic mice carrying Arg92Gln to have increased cardiac myocyte disarray, increased interstitial collagen synthesis, and diastolic dysfunction. Tardiff et al. (1999) also showed the transgenic mouse hearts to have increased interstitial fibrosis, hypercontractility, and diastolic dysfunction. In vitro functional data from Palm et al. (2001) suggests that a change at codon 92—whether Arg92Trp, Arg92Gln or Arg92Leu—impairs binding of troponin T to tropomyosin, and makes the protein less effective at promoting the binding of tropomyosin to actin. Takahashi-Yanaga et al. (2001) showed the variant to impair the inhibitory effect of Troponin I on the sarcomere. Hinkle & Tobacman (2003) showed the variant to impair folding of the troponin T tail domain. Javadpour et al. (2003) found significant changes in cardiac energetics in transgenic mice carrying the variant. [[Note: Other papers to address the altered properties of myocytes containing this variant include Marian et al. 1997, Morimoto et al. 1998, Sweeney et al. 1998, Rust et al.1999, Yanaga et al. 1999, Szczesna et al. 2000, Chandra et al. 2001, Montgomery et al. 2001, Robinson et al. 2002, Solaro et al. 2002, Maass et al. 2004, and others. These are not reviewed here.]] Jimenez & Tardiff (2011) found Arg92Gln transgenic mice had an increased incidence of heart block and a greater frequency of premature ventricular contractions after isoproterenol injections. They also had abnormal autonomic regulation of heart rate. This is a nonconservative amino acid change from a basic, positively-charged Arginine to a polar, neutral Glutamine. The Arginine at codon 92 is highly conserved across 39 vertebrate species examined (it is a Lysine in medaka) and surrounding residues are also highly conserved. In silico analysis with PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/) predicts the variant to be “probably damaging” In total the variant has not been seen in ~7030 published controls and publicly available population datsets. There is no variation at codon 92 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian African American individuals (as of July 2nd, 2014). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of July 2nd, 2014). The variant was not observed in published controls: Thierfelder et al. (1994) did not find Arg92Gln in 100 controls. Watkins et al. (1995) did not observe it in more than 100 control individuals, ethnicity not specified. Torricelli et al. (2003) did not find it in 150 healthy controls from Tuscany. Morita et al. (2008) did not find it in 180 ethnicity-matched controls. (less)
Number of individuals with the variant: 9
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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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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: SCV001953929.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 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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Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models. | Ferrantini C | Journal of the American Heart Association | 2017 | PMID: 28735292 |
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 |
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. | Ripoll-Vera T | Revista espanola de cardiologia (English ed.) | 2016 | PMID: 26507537 |
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. | Lopes LR | Heart (British Cardiac Society) | 2015 | PMID: 25351510 |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. | Tian T | Heart and vessels | 2015 | PMID: 24691700 |
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. | Coppini R | Journal of the American College of Cardiology | 2014 | PMID: 25524337 |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. | Kassem HSh | Journal of cardiovascular translational research | 2013 | PMID: 23233322 |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. | Liu B | PloS one | 2012 | PMID: 22675533 |
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. | Pasquale F | Circulation. Cardiovascular genetics | 2012 | PMID: 22144547 |
IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement. | Ariyarajah V | Circulation | 2009 | PMID: 19487599 |
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. | García-Castro M | Revista espanola de cardiologia | 2009 | PMID: 19150014 |
Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. | Strijack B | Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance | 2008 | PMID: 19087273 |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. | Olivotto I | Mayo Clinic proceedings | 2008 | PMID: 18533079 |
Shared genetic causes of cardiac hypertrophy in children and adults. | Morita H | The New England journal of medicine | 2008 | PMID: 18403758 |
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 |
Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. | Ertz-Berger BR | Proceedings of the National Academy of Sciences of the United States of America | 2005 | PMID: 16326803 |
Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. | Torricelli F | The American journal of cardiology | 2003 | PMID: 14636924 |
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. | Robinson P | The Journal of biological chemistry | 2002 | PMID: 12186860 |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. | Palm T | Biophysical journal | 2001 | PMID: 11606294 |
Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. | Chandra M | American journal of physiology. Heart and circulatory physiology | 2001 | PMID: 11158969 |
Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. | Tardiff JC | The Journal of clinical investigation | 1999 | PMID: 10449439 |
Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. | Yanaga F | The Journal of biological chemistry | 1999 | PMID: 10085122 |
Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. | Oberst L | The Journal of clinical investigation | 1998 | PMID: 9788962 |
Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. | Marian AJ | Circulation research | 1997 | PMID: 9201030 |
Sudden death due to troponin T mutations. | Moolman JC | Journal of the American College of Cardiology | 1997 | PMID: 9060892 |
Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. | Koga Y | Journal of cardiac failure | 1996 | PMID: 8951566 |
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. | Watkins H | The New England journal of medicine | 1995 | PMID: 7898523 |
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. | Thierfelder L | Cell | 1994 | PMID: 8205619 |
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Text-mined citations for rs121964856 ...
HelpRecord last updated Mar 05, 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.