ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) (rs863225119)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000201488 SCV000256204 likely pathogenic Familial hypertrophic cardiomyopathy 2 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762875 SCV000893255 likely pathogenic Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000762875 SCV001507073 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2020-01-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 271 of the TNNT2 protein (p.Asn271Ile). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 22857948, 20038417, 23396983, 12707239). This variant is also known as c.833A>T (p.Asn278Ile) in the literature. ClinVar contains an entry for this variant (Variation ID: 217495). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001589084 SCV001826487 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing No data available from control populations to assess the frequency of this variant; however, this variant has not been detected at a significant frequency in presumably healthy individuals tested at GeneDx; Reported in ClinVar (ClinVar Variant ID# 217495; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33025817, 22857948, 12707239, 24093860)

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