ClinVar Genomic variation as it relates to human health
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
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_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
Variation ID: 43381 Accession: VCV000043381.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19q13.42 19: 55154157 (GRCh38) [ NCBI UCSC ] 19: 55665525 (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 May 29, 2016 Feb 28, 2024 Jan 3, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000363.5:c.422G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000354.4:p.Arg141Gln missense NC_000019.10:g.55154157C>T NC_000019.9:g.55665525C>T NG_007866.2:g.8576G>A NG_011829.2:g.82G>A LRG_432:g.8576G>A LRG_432t1:c.422G>A LRG_679:g.82G>A P19429:p.Arg141Gln - Protein change
- R141Q
- Other names
- p.R141Q:CGG>CAG
- Canonical SPDI
- NC_000019.10:55154156: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.
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
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
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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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TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | 726 |
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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (4) |
criteria provided, single submitter
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Nov 15, 2021 | RCV000159220.9 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 3, 2024 | RCV000465349.15 | |
Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Mar 20, 2020 | RCV000777481.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 11, 2020 | RCV002326734.1 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jul 28, 2021 | RCV002477081.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 22, 2022 | RCV002051801.1 |
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
(Nov 15, 2021)
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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: SCV000209166.10
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15524171, 18227814, 21533915, 24510615, 25351510, 22429680, 12707239, 12860912, 18403758, 19645627, 22876777, 22455086, 23283745, 25524337, 23967088, 27532257, 15607392, 31727422, 31737537, 31447099, 33087929, 34428338, 33673806, 26582918) (less)
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Pathogenic
(Jul 26, 2019)
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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: SCV000059942.7
First in ClinVar: May 03, 2013 Last updated: Jul 03, 2020 |
Comment:
The p.Arg141Gln variant in TNNI3 has been reported in >25 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in 3 affected relatives from 3 … (more)
The p.Arg141Gln variant in TNNI3 has been reported in >25 individuals with hypertrophic cardiomyopathy (HCM) and segregated with disease in 3 affected relatives from 3 families (Richard 2003, Van Driest 2003, Mogensen 2004, Morita 2008, Curila 2009, van den Wijngaard 2011, Rani 2012, Santos 2012, Kapplinger 2014, Walsh 2017, Invitae pers. comm., LMM data). It was also identified in the homozygous state in an individual with a severe HCM presentation (Mogensen 2004) and in 2 individuals with early-onset HCM who had an additional variant in an HCM-associated gene (MYBPC3, TNNT2) that was likely contributing to disease (Morita 2008, LMM data, Santos 2012). Additionally, this variant has been reported by other clinical laboratories in ClinVar (Variation ID 43381) and has also been identified in 1/8710 of African chromosomes by gnomAD (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied: PS4_Very Strong, PP1, PM2. (less)
Number of individuals with the variant: 11
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Likely pathogenic
(Mar 20, 2020)
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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: SCV001333207.2
First in ClinVar: May 31, 2020 Last updated: Dec 29, 2021 |
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Pathogenic
(Dec 11, 2020)
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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: SCV002632086.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The p.R141Q pathogenic mutation (also known as c.422G>A), located in coding exon 7 of the TNNI3 gene, results from a G to A substitution at … (more)
The p.R141Q pathogenic mutation (also known as c.422G>A), located in coding exon 7 of the TNNI3 gene, results from a G to A substitution at nucleotide position 422. The arginine at codon 141 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in several individuals with hypertrophic cardiomyopathy (HCM) or from HCM cohorts (Richard P et al. Circulation. 2003;107:2227-32; Van Driest SL et al. Circulation. 2003;108:445-51; van den Wijngaard A et al. Neth Heart J. 2011;19:344-51; Rani DS et al. BMC Med. Genet. 2012;13:69; Zou Y et al. Mol Biol Rep. 2013;40:3969-76; Landry CH et al. N Engl J Med. 2017;377(20):1943-1953). This variant was detected in the homozygous state in an individual with severe biventricular hypertrophy (Mogensen J et al. J Am Coll Cardiol. 2004;44:2315-25), and has co-occurred with other variants in cardiac-related genes in affected individuals, including an individual from a childhood-onset HCM cohort (Morita H et al. N Engl J Med. 2008;358:1899-908; Santos S et al. BMC Med Genet. 2012;13:17). This variant has been reported as de novo and shown segregation with disease (Curila K et al. Genet Test Mol Biomarkers. 2009;13:647-50); however, it has also been detected in unaffected relatives (Mogensen J et al. J Am Coll Cardiol. 2004;44:2315-25). Based on internal structural assessment, this alteration disrupts a well-established phosphorylation motif necessary for myofilament Ca2+ sensitivity and ATPase activity (Pi Y et al. J Physiol, 2003 Nov;552:845-57; Wang C et al. Structure, 2012 May;20:791-801). This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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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Likely pathogenic
(Mar 22, 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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Color Diagnostics, LLC DBA Color Health
Accession: SCV000913343.3
First in ClinVar: May 20, 2019 Last updated: Jan 12, 2022 |
Comment:
This missense variant is located in the inhibitory, actin binding region of the TNNI3 protein. Computational prediction tools and conservation analyses suggest that this variant … (more)
This missense variant is located in the inhibitory, actin binding region of the TNNI3 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in more than ten individuals affected with hypertrophic cardiomyopathy (PMID: 12707239, 18403758, 23283745, 19645627, 22429680, 25524337, 22876777), including a homozygous individual who showed a severe phenotype (PMID: 15607392). This variant has been identified in 1/30938 chromosomes by the Genome Aggregation Database (gnomAD). Based on available evidence, this variant is classified as Likely Pathogenic. (less)
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Pathogenic
(Mar 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 7
Affected status: yes
Allele origin:
germline
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3billion
Accession: SCV002318899.1
First in ClinVar: Apr 02, 2022 Last updated: Apr 02, 2022 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000043381, PMID:12707239). The variant … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000043381, PMID:12707239). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 12707239, 12860912, 18403758, 19645627, 27532257, 26440512). In silico tool predictions suggest damaging effect of the variant on gene or gene product (3CNET: 0.982>=0.75). A missense variant is a common mechanism. It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0011792). 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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Pathogenic
(Jul 28, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A Dilated cardiomyopathy 1FF Hypertrophic cardiomyopathy 7
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002789029.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Likely pathogenic
(Mar 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7 Cardiomyopathy, familial restrictive, 1 Dilated cardiomyopathy 1FF
Affected status: unknown
Allele origin:
germline
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Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV003920895.1
First in ClinVar: May 06, 2023 Last updated: May 06, 2023 |
Comment:
TNNI3 NM_000363.4 exon 7 p.Arg141Gln (c.422G>A): This variant has been reported in the literature in several individuals with HCM, including once in the homozygous state … (more)
TNNI3 NM_000363.4 exon 7 p.Arg141Gln (c.422G>A): This variant has been reported in the literature in several individuals with HCM, including once in the homozygous state (Richard 2003 PMID:12707239, Van Driest 2003 PMID:12860912, Morgensen 2004 PMID:15607392, Santos 2012 PMID:22429680, Rani 2012 PMID:22876777, Ramachandran 2013 PMID:23967088, Walsh 2017 PMID:27532257). This variant also segregated with disease in one family (Curila 2009 PMID:19645627). This variant is present in 0.003% (1/31370) of total alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/19-55665525-C-T). Please note, disease causing variants may be present in control databases at low frequencies, reflective of the general population, and/or variable expressivity. This variant is also present in ClinVar, with several labs classifying this variant as pathogenic or likely pathogenic (Variation ID:43381). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic. (less)
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Pathogenic
(Jan 03, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000551896.10
First in ClinVar: Apr 17, 2017 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 141 of the TNNI3 protein (p.Arg141Gln). … (more)
This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 141 of the TNNI3 protein (p.Arg141Gln). This variant is present in population databases (rs397516347, gnomAD 0.01%). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 12707239, 15607392, 18403758, 19645627, 22429680, 22876777, 23283745, 25524337). ClinVar contains an entry for this variant (Variation ID: 43381). 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 disruptive. For these reasons, this variant has been classified as Pathogenic. (less)
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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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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930066.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Likely pathogenic
(Dec 12, 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: SCV000280506.1
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.Arg141Gln (c.422 G>A) in the TNNI3 gene (NM_000363.4). Given the strong case data and absence in the general population (reviewed below) we consider this variant likely disease causing. The variant has been seen in at least 11 unrelated cases of HCM (not including this patient's family). There is only weak segregation data available from one family. Richard et al (2003) observed the variant in one patient with HCM from their 197 patient French cohort that underwent sequencing of multiple sarcomere genes. van Driest et al (2003) observed the variant in one patient with HCM from their 389 patient cohort recruited at Mayo. He was diagnosed at 27 years of age. Mogenson et al (2004) observed the variant in two HCM patients from their cohort of 748 HCM patients cared for by Bill McKenna's group at St. George's hospital in London. One patient was actually homozygous for the variant. That patient was noted to have a particularly severe presentation with biventricular hypertrophy. Family members were not available to be evaluated but there was concerning family history. Morita et al (2008) observed the variant in one HCM patient in a cohort of 84 pediatric HCM cases from the pediatric cardiomyopathy registry (recruited throughout North America). The patient also carried p.Arg495Gln in MYBPC3 (we have reviewed this variant and classify it as likely disease causing). Individual phenotypic details were not available (though onset was pediatric in all cases). Rani et al (2012) sequenced just TNNI3 in 101 patients with HCM from their South Indian cohort and observed this variant in two patients. They do not explicitly state that the patients were all unrelated, though presumably they were. Santos et al (2012) observed the variant in one HCM patient from their Portuguese cohort of 80 HCM patients. Curila et al (2009) observed the variant in 2 patients with HCM in their Czech cohort of 101 HCM patients. In one family it segregated with disease in 2 affected first degree relatives. van den Wijngaard et al (2011) observed the variant in a patient with HCM from a large cohort of 1040 HCM patients pooled from clinics across the Netherlands. Ramachandran et al (2013) studied this variant in silico and found it altered local protein structure and changed intra and intermolecular hydrogen bonding patterns. In silico analysis with PolyPhen-2 predicts the variant to be probably damaging (score 0.975) and SIFT predicts it to be deleterious. The Grantham score is 43. The arginine at codon 141 is completely conserved across mammals, as are neighboring amino acids. Other variants have been reported in association with disease at nearby codons (Arg145Gln, Arg145Gly, Arg144Gln, Arg144Pro). I could not find another variant at the same codon. The variant falls in the troponin C binding domain. Of note, there are a lot of variants in patients in this region but none to few in general population samples like NHLBI ESP. In total the variant has not been seen in 7310 laboratory controls, published controls and individuals from publicly available population datasets. There is no variation at codon 141 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6500 Caucasian and African American individuals (as of April 8th, 2014). There is also no variation at this codon listed in dbSNP (as of April 8th, 2014). The variant was not observed in the following laboratory and published control samples: 200 healthy individuals analyzed by GeneDx, 100 healthy individuals (Richard et al 2003), 200 healthy individuals (van Driest et al 2003), 160 healthy individuals from South India (Deepa et al 2012), 150 healthy individuals (Mogenson et al 2004). (less)
Number of individuals with the variant: 12
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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: SCV001956803.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Likely pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Cardiomyopathy
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Wuerzburg
Accession: SCV003804384.1
First in ClinVar: Feb 25, 2023 Last updated: Feb 25, 2023 |
Number of individuals with the variant: 1
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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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Sudden Cardiac Arrest during Participation in Competitive Sports. | Landry CH | The New England journal of medicine | 2017 | PMID: 29141175 |
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. | Viswanathan SK | PloS one | 2017 | PMID: 29121657 |
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 |
A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies. | Mogensen J | The Canadian journal of cardiology | 2015 | PMID: 26440512 |
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 |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | Kapplinger JD | Journal of cardiovascular translational research | 2014 | PMID: 24510615 |
An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin. | Ramachandran G | PloS one | 2013 | PMID: 23967088 |
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. | Zou Y | Molecular biology reports | 2013 | PMID: 23283745 |
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. | Rani DS | BMC medical genetics | 2012 | PMID: 22876777 |
Substrate recognition mechanism of atypical protein kinase Cs revealed by the structure of PKCι in complex with a substrate peptide from Par-3. | Wang C | Structure (London, England : 1993) | 2012 | PMID: 22579248 |
Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy. | Curila K | Acta cardiologica | 2012 | PMID: 22455086 |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. | Santos S | BMC medical genetics | 2012 | PMID: 22429680 |
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. | van den Wijngaard A | Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2011 | PMID: 21533915 |
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | Jordan DM | American journal of human genetics | 2011 | PMID: 21310275 |
Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy. | Curila K | Genetic testing and molecular biomarkers | 2009 | PMID: 19645627 |
Shared genetic causes of cardiac hypertrophy in children and adults. | Morita H | The New England journal of medicine | 2008 | PMID: 18403758 |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. | Mogensen J | Journal of the American College of Cardiology | 2004 | PMID: 15607392 |
Protein kinase C and A sites on troponin I regulate myofilament Ca2+ sensitivity and ATPase activity in the mouse myocardium. | Pi Y | The Journal of physiology | 2003 | PMID: 12923217 |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. | Van Driest SL | Circulation | 2003 | PMID: 12860912 |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | Richard P | Circulation | 2003 | PMID: 12707239 |
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Text-mined citations for rs397516347 ...
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.