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NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 6, 2020
Accession:
VCV001052513.1
Variation ID:
1052513
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.587A>G (p.Asp196Gly)

Allele ID
1051516
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151880 (GRCh38) GRCh38 UCSC
19: 55663248 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432:g.10853A>G
LRG_679:g.2359A>G
NC_000019.10:g.55151880T>C
... more HGVS
Protein change
D196G
Other names
-
Canonical SPDI
NC_000019.10:55151879:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 6, 2020 RCV001360712.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNI3 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
438 493

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001556644.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces aspartic acid with glycine at codon 196 of the TNNI3 protein (p.Asp196Gly). The aspartic acid residue is highly conserved and there … (more)

Functional evidence

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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 this variant

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Title Author Journal Year Link
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
Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population. Wang C Molecular genetics and genomics : MGG 2016 PMID: 26169204
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
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
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Richard P Circulation 2003 PMID: 12707239
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Niimura H Circulation 2002 PMID: 11815426

Record last updated Oct 08, 2021