ClinVar Genomic variation as it relates to human health
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
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.266T>A (p.Ile89Asn)
Variation ID: 12408 Accession: VCV000012408.33
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q32.1 1: 201365638 (GRCh38) [ NCBI UCSC ] 1: 201334766 (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 Dec 30, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001276345.2:c.266T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001263274.1:p.Ile89Asn missense NM_000364.4:c.266T>A NP_000355.2:p.Ile89Asn missense NM_001001430.3:c.236T>A NP_001001430.1:p.Ile79Asn missense NM_001001431.3:c.236T>A NP_001001431.1:p.Ile79Asn missense NM_001001432.3:c.221T>A NP_001001432.1:p.Ile74Asn missense NM_001276346.2:c.263T>A NP_001263275.1:p.Ile88Asn missense NM_001276347.2:c.236T>A NP_001263276.1:p.Ile79Asn missense NC_000001.11:g.201365638A>T NC_000001.10:g.201334766A>T NG_007556.1:g.17040T>A LRG_431:g.17040T>A LRG_431t1:c.266T>A LRG_431p1:p.Ile89Asn - Protein change
- I79N, I89N, I74N, I88N
- Other names
- p.I79N:ATC>AAC
- Canonical SPDI
- NC_000001.11:201365637:A: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) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
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 |
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 (3) |
criteria provided, single submitter
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Apr 11, 2023 | RCV000013217.35 | |
Pathogenic (2) |
criteria provided, single submitter
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Apr 11, 2023 | RCV000013219.26 | |
Pathogenic (2) |
criteria provided, single submitter
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Apr 11, 2023 | RCV000013218.19 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Feb 15, 2022 | RCV000159272.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 24, 2022 | RCV000211864.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 23, 2022 | RCV000243910.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 30, 2023 | RCV000684789.7 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 18, 2017 | RCV001171170.2 |
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
(Nov 23, 2017)
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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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Blueprint Genetics
Accession: SCV000927479.1
First in ClinVar: Jul 24, 2019 Last updated: Jul 24, 2019 |
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Pathogenic
(Dec 18, 2017)
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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: SCV001333859.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
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Pathogenic
(Apr 08, 2019)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713933.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Comment:
PS3, PS4, PP1_Strong, PM2, PP3
Number of individuals with the variant: 1
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Pathogenic
(Jun 23, 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: SCV000319765.6
First in ClinVar: Oct 02, 2016 Last updated: Nov 29, 2022 |
Comment:
The p.I79N pathogenic mutation (also known as c.236T>A), located in coding exon 7 of the TNNT2 gene, results from a T to A substitution at … (more)
The p.I79N pathogenic mutation (also known as c.236T>A), located in coding exon 7 of the TNNT2 gene, results from a T to A substitution at nucleotide position 236. The isoleucine at codon 79 is replaced by asparagine, an amino acid with dissimilar properties. This mutation has been observed in multiple unrelated individuals with hypertrophic cardiomyopathy and/or sudden cardiac death, and has been shown to segregate with disease in families (Thierfelder L et al. Cell 1994;77(5):701-12; Watkins HN et al. Engl J Med. 1995;332(16):1058-64; Varnava AM et al. Circulation 2001;104(12):1380-4). In one family, this mutation was identified in members with variable presentations, including features of hypertrophic, restrictive, or dilated cardiomyopathy (Menon SC et al. Clin Genet. 2008;74(5):445-54). Multiple in vitro functional studies and mice models have demonstrated abnormal protein function with altered calcium sensitivity, impairment of the inhibitory action of troponin I, and enhanced contractility of cardiac muscle (Yanaga F et al. J Biol Chem. 1999;274(13):8806-12; Szczesna D et al. J Biol Chem. 2000;275(1):624-30; Miller T et al. J Biol Chem. 2001;276(6):3743-55; Knollmann BC. J Biol Chem. 2001;276(13):10039-48; Sommese RF et al. PLoS ONE. 2013;8(12):e83403). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is predicted to be deleterious by in silico analysis. 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
(Feb 15, 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: SCV000209218.16
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at a significant frequency in large population cohorts (gnomAD); Multiple functional studies suggest that p.(I79N) impacts myofilament calcium sensitivity (Yanaga et al., 1999; … (more)
Not observed at a significant frequency in large population cohorts (gnomAD); Multiple functional studies suggest that p.(I79N) impacts myofilament calcium sensitivity (Yanaga et al., 1999; Szczesna et al., 2000; Knollman et al., 2001; Miller et al., 2001; Sommese et al., 2013; Wang et al., 2018); 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: 23663841, 11060294, 10617660, 21683708, 24367593, 26914223, 18651846, 21310275, 27532257, 28166811, 7898523, 8205619, 11113119, 22144547, 28241245, 23396983, 28640247, 28615295, 24510615, 11060291, 29217433, 31006259, 33673806, 33025817, 10085122) (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: SCV004181537.1
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: SCV004181535.1
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: SCV004181536.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
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Pathogenic
(Dec 30, 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: SCV000285647.9
First in ClinVar: Jul 01, 2016 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 79 of the TNNT2 protein (p.Ile79Asn). … (more)
This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 79 of the TNNT2 protein (p.Ile79Asn). This variant is present in population databases (rs121964855, gnomAD 0.0009%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 8205619, 18651846, 26914223, 27532257). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12408). 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: 10085122, 10617660, 11060291, 11113119, 21683708, 23663841). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000060219.7
First in ClinVar: May 03, 2013 Last updated: Apr 20, 2024 |
Comment:
The p.Ile79Asn variant in TNNT2 has been reported in >10 individuals with HCM and segregated with disease in >15 affected relatives from two families (Thierfelder … (more)
The p.Ile79Asn variant in TNNT2 has been reported in >10 individuals with HCM and segregated with disease in >15 affected relatives from two families (Thierfelder 1994 PMID: 8205619, Watkins 1995 PMID: 7898523, Varnava 2001 PMID: 11560853, Menon 2008 PMID: 18651846, Murphy 2016 PMID: 26914223, Walsh 201 PMID:27532257, LMM data). This variant has also been identified in 0.001% (1/68028) European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1). In vitro functional studies and animal models suggest that the p.Ile79Asn variant may impact protein function (Yanaga 1999 PMID: 10085122, Miller 2001 PMID: 11060294, Knollmann 2001 PMID: 11113119) and computational prediction tools and conservation analyses are consistent with pathogenicity. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PS4_Moderate, PP1_Strong, PM2_Supporting, PS3_Moderate, PP3. (less)
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Pathogenic
(Nov 01, 2008)
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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: SCV000033464.3
First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023 |
Comment on evidence:
In members of family AW afflicted with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) found heterozygosity … (more)
In members of family AW afflicted with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) found heterozygosity for a 248T-A transversion in the TNNT2 gene, changing codon 79 from ATC to AAC and replacing the normal nonpolar isoleucine with a polar asparagine residue. In affected members of a 3-generation family segregating autosomal dominant cardiomyopathy, in which the proband had a restrictive phenotype (RCM3; 612422) and relatives had clinical features of restrictive, hypertrophic, and/or dilated (CMD1D; 601494) cardiomyopathy, Menon et al. (2008) identified heterozygosity for the I79N mutation in the TNNT2 gene. The mutation was not found in unaffected individuals. Despite the variable morphology, all affected members of the family exhibited restrictive physiology. There was a high incidence of atrial tachyarrhythmia but no significant ventricular arrhythmia or sudden death in affected members of this family. (less)
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Pathogenic
(Nov 01, 2008)
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no assertion criteria provided
Method: literature only
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CARDIOMYOPATHY, FAMILIAL, RESTRICTIVE, 3
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033466.3
First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023 |
Comment on evidence:
In members of family AW afflicted with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) found heterozygosity … (more)
In members of family AW afflicted with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) found heterozygosity for a 248T-A transversion in the TNNT2 gene, changing codon 79 from ATC to AAC and replacing the normal nonpolar isoleucine with a polar asparagine residue. In affected members of a 3-generation family segregating autosomal dominant cardiomyopathy, in which the proband had a restrictive phenotype (RCM3; 612422) and relatives had clinical features of restrictive, hypertrophic, and/or dilated (CMD1D; 601494) cardiomyopathy, Menon et al. (2008) identified heterozygosity for the I79N mutation in the TNNT2 gene. The mutation was not found in unaffected individuals. Despite the variable morphology, all affected members of the family exhibited restrictive physiology. There was a high incidence of atrial tachyarrhythmia but no significant ventricular arrhythmia or sudden death in affected members of this family. (less)
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Pathogenic
(Nov 01, 2008)
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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: SCV000033465.3
First in ClinVar: Apr 04, 2013 Last updated: Jul 16, 2023 |
Comment on evidence:
In members of family AW afflicted with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) found heterozygosity … (more)
In members of family AW afflicted with the form of familial hypertrophic cardiomyopathy (CMH2; 115195) linked to chromosome 1, Thierfelder et al. (1994) found heterozygosity for a 248T-A transversion in the TNNT2 gene, changing codon 79 from ATC to AAC and replacing the normal nonpolar isoleucine with a polar asparagine residue. In affected members of a 3-generation family segregating autosomal dominant cardiomyopathy, in which the proband had a restrictive phenotype (RCM3; 612422) and relatives had clinical features of restrictive, hypertrophic, and/or dilated (CMD1D; 601494) cardiomyopathy, Menon et al. (2008) identified heterozygosity for the I79N mutation in the TNNT2 gene. The mutation was not found in unaffected individuals. Despite the variable morphology, all affected members of the family exhibited restrictive physiology. There was a high incidence of atrial tachyarrhythmia but no significant ventricular arrhythmia or sudden death in affected members of this family. (less)
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Pathogenic
(Jul 23, 2014)
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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: SCV000280514.1
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. p.Ile79Asn (c.236T>A) in the TNNT2 gene. This variant has been reported in at least one family with HCM and a high burden of sudden death, one family with a range of cardiomyopathy phenotypes, and in one case of sudden cardiac death. Strong segregation data has been reported in both cardiomyopathy kindreds. Thierfelder et al (1994) and Watkins et al (1995) reported a family with 9 affected family members who all had this variant; four of these individuals suffered a sudden cardiac death. One of the individuals who died suddenly and had the variant was a 16 year old male who had normal clinical findings. Varnava et al (2001) reported the variant in a male who died suddenly at 16 years of age and had evidence of HCM on autopsy. They did not provide detailed phenotypic information about that individual. Menon et al (2008) reported a family with RCM, HCM, and DCM; all nine affected family members carried the p.Ile79Asn variant. Disease-associated variants have been reported in neighboring codons (p.Phe77Leu and p.Gly83Lys), indicating the functional significance of this region in the TNNT2 gene. This is a non conservative amino acid change with a nonpolar Isoleucine being replaced with a polar Asparagine. Isoleucine is completely conserved at position 79 in the cardiac troponin T sequence across all vertebrates. Transgenic mice with this variant do not develop cardiac hypertrophy, even with chronic exercise, however they do show increased calcium sensitivity of the ATPase activity and force development in cardiac myofilaments (Miller et al 2001). Knollman et al (2001) further characterized transgenic mice, concluding that the increased myofilament calcium sensitivity increases baseline contractility but leads to cardiac dysfunction during inotropic stimulation. Rust et al (1999) studied the variant in single adult cardiomyocytes and observed impaired expression of the mutant protein and a disabling of cardiac contraction in the submaximal range of myoplasmic calcium concentrations. Lin et al (1996) studied the equivalent variant in rats and found 50% faster thin filament movement over a surface coated with heavy meromyosin. The variant has also been found to decrease the calcium sensitivity of force production and increase the unloaded shortening velocity (Sweeney et al 1998). Palm et al (2001) found that p.Ile79Asn does not affect tropomyosin binding while variants in resides 92-110 do. Some authors have suggested that this variant and other variants in TNNT2 confer a greater risk of sudden cardiac death with less or even no hypertrophy (Watkins et al 1995; Varnava et al 2001). Certainly the family reported by Thierfelder et al (1994) and then Watkins et al (1995) had multiple cases of sudden death, several with little or no hypertrophy. However, the family reported by Menon et al (2008) had no cases of sudden death or ventricular arrhythmias. In total the variant has not been seen in ~6890 published controls and individuals from publicly available population datasets. There is no variation at codon 79 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of January 30th, 2013). The variant is listed in dbSNP and 1000 genomes but ony in reference to the OMIM entry (rs121964855) (as of January 30th, 2013). The variant was not observed in the following published control samples: Thierfelder et al (1994) did not observe the variant in 100 presumably healthy controls whose race is unspecified. Varnava et al (2001) did not find the variant in 90 controls whose ethnicity is unknown. The testing lab did not detect the variant in 200 individuals of either Caucasian or African American descent. (less)
Number of individuals with the variant: 10
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Likely pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Hypertrophic cardiomyopathy 2
Affected status: yes
Allele origin:
germline
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Genomics England Pilot Project, Genomics England
Accession: SCV001760003.1
First in ClinVar: Jul 27, 2021 Last updated: Jul 27, 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 |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. | Murphy SL | Journal of cardiovascular translational research | 2016 | PMID: 26914223 |
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 |
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. | Bai F | Biophysical journal | 2013 | PMID: 23663841 |
Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations. | Midde K | Journal of molecular and cellular cardiology | 2011 | PMID: 21683708 |
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. | Menon SC | Clinical genetics | 2008 | PMID: 18651846 |
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. | Palm T | Biophysical journal | 2001 | PMID: 11606294 |
Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. | Varnava AM | Circulation | 2001 | PMID: 11560853 |
Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. | Knollmann BC | The Journal of biological chemistry | 2001 | PMID: 11113119 |
Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. | Miller T | The Journal of biological chemistry | 2001 | PMID: 11060294 |
Characterization of the two eIF4A-binding sites on human eIF4G-1. | Korneeva NL | The Journal of biological chemistry | 2001 | PMID: 11060291 |
Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. | Szczesna D | The Journal of biological chemistry | 2000 | PMID: 10617660 |
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 |
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 rs121964855 ...
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.