ClinVar Genomic variation as it relates to human health
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
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_003280.3(TNNC1):c.23C>T (p.Ala8Val)
Variation ID: 12443 Accession: VCV000012443.48
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 3p21.1 3: 52453993 (GRCh38) [ NCBI UCSC ] 3: 52488009 (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 15, 2024 Dec 11, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_003280.3:c.23C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_003271.1:p.Ala8Val missense NC_000003.12:g.52453993G>A NC_000003.11:g.52488009G>A NG_008963.1:g.5049C>T NG_033112.1:g.3486G>A LRG_378:g.5049C>T LRG_378t1:c.23C>T P63316:p.Ala8Val - Protein change
- A8V
- Other names
- p.A8V:GCG>GTG
- Canonical SPDI
- NC_000003.12:52453992: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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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00004
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
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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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TNNC1 | - | - |
GRCh38 GRCh37 |
314 | 326 |
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, multiple submitters, no conflicts
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Feb 23, 2023 | RCV000013256.36 | |
Uncertain significance (1) |
no assertion criteria provided
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Jan 21, 2015 | RCV000037762.5 | |
Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Aug 1, 2022 | RCV000159204.24 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 19, 2023 | RCV000618084.5 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 11, 2023 | RCV001034686.6 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Mar 16, 2018 | RCV000824773.5 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Nov 20, 2023 | RCV001582477.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 28, 2022 | RCV003147283.2 |
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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Likely pathogenic
(Mar 16, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061424.6
First in ClinVar: May 03, 2013 Last updated: Aug 26, 2019 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 2
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Likely pathogenic
(Aug 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1Z
Hypertrophic cardiomyopathy 13
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002811491.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Jun 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 13
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003835274.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Jun 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1Z
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003835266.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Likely pathogenic
(Nov 20, 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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001821228.2
First in ClinVar: Sep 08, 2021 Last updated: Jan 06, 2024 |
Comment:
Variant summary: TNNC1 c.23C>T (p.Ala8Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging … (more)
Variant summary: TNNC1 c.23C>T (p.Ala8Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. As this variant is located in the exonic splice region close to the canonical intronic splice donor site, several computational tools predict a conflicting impact on normal splicing: One predicts no significant impact on splicing. One predicts the variant abolishes the canonical 5' splicing donor site. Two predict the variant weakens the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.3e-05 in 1585600 control chromosomes (gnomAD v4.0). This frequency is not significantly higher than estimated for a pathogenic variant in TNNC1 causing Cardiomyopathy (1.3e-05 vs 2.5e-05), allowing no conclusion about variant significance. c.23C>T has been reported in the literature in individuals affected with Cardiomyopathy (eg. Landstrom_2008, Bos_2014, Jaafar_2015, Martins_2015, Ploski_2016, Jaaskelainen_2019, Mademont-Soler_2017, van Lint_2019, etc). The only segregation data reported by these studies was the observation of the variant in two siblings with infantile onset restrictive cardiomyopathy who were compound heterozygous with a second variant in TNNC1, and both heterozygous parents were asymptomatic (Ploski_2016). These data indicate that the variant is very likely to be associated with disease. There have been a variety of in vitro functional studies reported on this variant which suggest the variant impacts the function of the Troponin C protein, but the observed effects were varied and the physiological relevance of those effects in humans is unclear (eg. Landstrom_2008). Additionally, a mouse model with this variant was shown to recapitulate aspects of human HCM, further suggesting a functional impact of the variant (Martins_TNNC1_CCG_2015). The following publications have been ascertained in the context of this evaluation (PMID: 24793961, 26779504, 30775854, 18572189, 28771489, 26304555, 27604170, 30847666). Ten submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 (P/LP, n=9 ; VUS, n=1). Based on the evidence outlined above, the variant was classified as likely pathogenic. (less)
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Pathogenic
(Dec 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 13
Dilated cardiomyopathy 1Z
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: SCV000648283.5
First in ClinVar: Dec 26, 2017 Last updated: Feb 28, 2024 |
Comment:
This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 8 of the TNNC1 protein (p.Ala8Val). … (more)
This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 8 of the TNNC1 protein (p.Ala8Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with hypertrophic cardiomyopathy and/or TNNC1-related conditions (PMID: 18572189, 27574918, 30775854, 30847666, 33658040; Invitae). ClinVar contains an entry for this variant (Variation ID: 12443). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies have shown that this missense change affects TNNC1 function (PMID: 18572189, 19439414, 20459070, 21056975, 22489623, 23425245, 26304555). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Aug 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001246948.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
TNNC1: PM2, PS4:Moderate, PP3, PS3:Supporting
Number of individuals with the variant: 2
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Likely pathogenic
(Oct 10, 2019)
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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: SCV002043226.1
First in ClinVar: Jan 01, 2022 Last updated: Jan 01, 2022 |
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Likely pathogenic
(Mar 23, 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: SCV000209150.15
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect as it alters calcium sensitivity both in vitro and in vivo (Landstrom et al., 2008; Cordina et al., … (more)
Published functional studies demonstrate a damaging effect as it alters calcium sensitivity both in vitro and in vivo (Landstrom et al., 2008; Cordina et al., 2013; Albury et al., 2012; Martins et al., 2015); At the protein level, in silico analysis supports that this missense variant does not alter protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); Reported in ClinVar (ClinVar Variant ID# 12443; ClinVar); This variant is associated with the following publications: (PMID: 22489623, 27574918, 27604170, 27721798, 23425245, 19439414, 21056975, 20459070, 26183555, 26304555, 28473771, 18572189, 28445763, 28049727, 28533433, 30138628, 30070845, 24744096, 26529187, 34488226, 33179204, 33407484, 33658040, 30847666, 26976709) (less)
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Pathogenic
(Feb 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 13
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV003841812.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Missense changes are a common disease-causing mechanism. … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Missense changes are a common disease-causing mechanism. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 18572189). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.73; 3Cnet: 0.88). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000012443). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Left ventricular hypertrophy (present)
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Likely pathogenic
(Jan 19, 2023)
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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: SCV000740104.5
First in ClinVar: Apr 14, 2018 Last updated: Apr 15, 2023 |
Comment:
The p.A8V variant (also known as c.23C>T), located in coding exon 1 of the TNNC1 gene, results from a C to T substitution at nucleotide … (more)
The p.A8V variant (also known as c.23C>T), located in coding exon 1 of the TNNC1 gene, results from a C to T substitution at nucleotide position 23. The alanine at codon 8 is replaced by valine, an amino acid with similar properties. This alteration has been detected in numerous individuals with hypertrophic cardiomyopathy (HCM) (Landstrom AP et al. J Mol Cell Cardiol. 2008;45:281-8; Jaafar N et al. Glob Cardiol Sci Pract. 2015;2015:16; Mademont-Soler I et al. PLoS ONE, 2017 Aug;12:e0181465; GeneDx pers. comm; Invitae pers. comm.; Ambry internal data). This alteration was also detected in siblings with early onset restrictive cardiomyopathy (RCM) who both carried a second alteration in the TNNC1 gene (Ploski R et al. Am J Med Genet A., 2016;170:3241-3248). This alteration was also reported in an infant with microcephaly and RCM (Elmas M et al. J Pediatr Genet, 2022 Jun;11:110-116). A variety of in vitro functional studies have suggested that this alteration impacts the function of the Troponin C protein, but the observed effects were varied and the physiological relevance of those effects in humans is unclear (Landstrom AP et al. J Mol Cell Cardiol. 2008;45:281-8; Pinto JR et al. J Biol Chem. 2009;284:19090-100; Swindle N et al. Biochemistry. 2010;49:4813-20; Pinto JR et al. J Biol Chem. 2011;286:1005-13; Albury AN et al. Biochemistry. 2012;51:3614-21; Cordina NM et al. Biochemistry. 2013;52:1950-62; Zot HG et al. Arch Biochem Biophys. 201;601:97-104). However, aspects of human HCM are recapitulated in a mouse model with this alteration (Martins AS et al. Circ Cardiovasc Genet. 2015;8:653-64). This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
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Uncertain significance
(Jan 21, 2015)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280500.1
First in ClinVar: Jun 01, 2016 Last updated: Jun 01, 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.Ala8Val (c. 23 C>T) in TNNC1 Given the lack of case data and the somewhat tenuous link between HCM and TNNC1, we classify it as a variant of uncertain significance. This variant has been reported in one individual with HCM; he was diagnosed at 33 and had no family history of SCD or HCM (Landstrom et al 2008). To the best of our knowledge there are no other published reports of this variant in HCM. There is also no segregation data available on this variant. Only a handful of variants in TNNC1 have been reported in association with HCM and some groups question whether there is sufficient evidence supporting the link between HCM and TNNC1. Interestingly, from the paper that first reported this variant we are able to get data on the prevalence of TNNC1 variants in patients with HCM, which we can then compare to the prevalence of such variants in the general population. Landstrom et al (2008) sequenced TNNC1 in 1025 patients with HCM and identified rare missense variants (including this one) in 4 individuals (i.e. ~0.4%). Of note, in a general population sample, 0.1% of individuals had a rare or unique missense variant in TNNC1 (from the NHLBI ESP data set). Landstrom et al (2008) showed that specific missense mutations occurring in TNNC1, including this p.Ala8Val variant, show increased Ca2+ sensitivity of force development and force recovery. However, a subsequent paper from the same group noted that this variant was associated with diminished Ca2+ sensitivity (Pinto et al 2009). Swindle et al (2010) reported that p.Ala8Val did not affect the calcium or magnesium binding properties of the C-domain and it had no effects on binding of troponin C to troponin I. This variant occurs in the N-helix of the amino acid-terminal domain of the protein. The Alanine at codon 8 is completely conserved (Landstrom et al 2008). PolyPhen2 predicts the variant to be possibly damaging. It is not currently listed in the NHLBI Exome Sequencing Project dataset, which includes variant calls on ~5,300 Caucasian and African American individuals (as of May 2012). It is also not currently listed in dbSNP or 1000 genomes (as of May 2012). Landstrom et al (2008) did not observe the variant in 500 general population samples. p. Asp464Asn (c. 1390 G>A) in PRKAG2 Genetic testing also identified another variant of unknown significance in the PRKAG2 gene, Asp464Asn (c. 1390 G>A). This variant is novel. This results in a non-conservative amino acid change, where a negatively-charged amino acid (Aspartic Acid) is changed to a neutral, polar amino acid (Asparagine). This variant is predicted to be benign by PolyPhen-2 analysis. This residue is conserved across species. No other disease-causing variants have been reported at this or nearby codons. The variant was not observed in 313 individuals of various ethnic backgrounds at GeneDx. The variant is not currently listed in the NHLBI Exome Sequencing Project dataset, which includes variant calls on ~5,000 Caucasian and African American individuals (as of May 2012). The variant is not listed in dbSNP or 1000 genomes (as of May 2012). (less)
Number of individuals with the variant: 2
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Likely 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: SCV001920970.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Pathogenic
(Aug 01, 2008)
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no assertion criteria provided
Method: literature only
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033503.4
First in ClinVar: Apr 04, 2013 Last updated: Mar 10, 2024 |
Comment on evidence:
In a 37-year-old Caucasian man who was diagnosed at 33 years of age with hypertrophic cardiomyopathy (CMH13; 613243) after presenting with dyspnea, Landstrom et al. … (more)
In a 37-year-old Caucasian man who was diagnosed at 33 years of age with hypertrophic cardiomyopathy (CMH13; 613243) after presenting with dyspnea, Landstrom et al. (2008) identified heterozygosity for a c.23C-T transition in exon 1 of the TNNC1 gene, resulting in an ala8-to-val (A8V) substitution in the N-helix of the N-terminal domain. Functional studies using mutant porcine cardiac skinned fibers showed significantly increased force development and force recovery compared to wildtype. The mutation was not found in 400 Caucasian or 100 African American controls with normal screening ECGs and echocardiograms. (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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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: SCV001951874.1 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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Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy. | Chung H | Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance | 2021 | PMID: 33658040 |
Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy. | Chung H | Cardiovascular ultrasound | 2021 | PMID: 33407484 |
Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience. | Elmas M | Journal of pediatric genetics | 2020 | PMID: 35769956 |
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. | van Lint FHM | Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2019 | PMID: 30847666 |
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. | Jääskeläinen P | ESC heart failure | 2019 | PMID: 30775854 |
Structural and functional impact of troponin C-mediated Ca(2+) sensitization on myofilament lattice spacing and cross-bridge mechanics in mouse cardiac muscle. | Gonzalez-Martinez D | Journal of molecular and cellular cardiology | 2018 | PMID: 30138628 |
Molecular Dynamics and Umbrella Sampling Simulations Elucidate Differences in Troponin C Isoform and Mutant Hydrophobic Patch Exposure. | Bowman JD | The journal of physical chemistry. B | 2018 | PMID: 30070845 |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. | Mademont-Soler I | PloS one | 2017 | PMID: 28771489 |
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca(2+)-sensitizing mutations. | Stevens CM | The Journal of biological chemistry | 2017 | PMID: 28533433 |
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation. | Veltri T | Frontiers in physiology | 2017 | PMID: 28473771 |
Myosin Rod Hypophosphorylation and CB Kinetics in Papillary Muscles from a TnC-A8V KI Mouse Model. | Kawai M | Biophysical journal | 2017 | PMID: 28445763 |
Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype. | Marques MA | Frontiers in physiology | 2016 | PMID: 27721798 |
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. | Ploski R | American journal of medical genetics. Part A | 2016 | PMID: 27604170 |
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. | Jaafar N | Genetic testing and molecular biomarkers | 2016 | PMID: 27574918 |
Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. | Zot HG | Archives of biochemistry and biophysics | 2016 | PMID: 26976709 |
Increases of desmin and α-actinin in mouse cardiac myofibrils as a response to diastolic dysfunction. | Sheng JJ | Journal of molecular and cellular cardiology | 2016 | PMID: 26529187 |
Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different? | Jaafar N | Global cardiology science & practice | 2015 | PMID: 26779504 |
In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene. | Martins AS | Circulation. Cardiovascular genetics | 2015 | PMID: 26304555 |
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | Bos JM | Mayo Clinic proceedings | 2014 | PMID: 24793961 |
Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies. | Kalyva A | Journal of muscle research and cell motility | 2014 | PMID: 24744096 |
Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C. | Cordina NM | Biochemistry | 2013 | PMID: 23425245 |
Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation. | Albury AN | Biochemistry | 2012 | PMID: 22489623 |
Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach. | Pinto JR | The Journal of biological chemistry | 2011 | PMID: 21056975 |
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C. | Swindle N | Biochemistry | 2010 | PMID: 20459070 |
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. | Pinto JR | The Journal of biological chemistry | 2009 | PMID: 19439414 |
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. | Landstrom AP | Journal of molecular and cellular cardiology | 2008 | PMID: 18572189 |
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Text-mined citations for rs267607125 ...
HelpRecord last updated Apr 15, 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.