ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.488C>T (p.Ala163Val)

dbSNP: rs727504367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348309 SCV001542607 uncertain significance Hypertrophic cardiomyopathy 2022-09-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 177866). This missense change has been observed in individual(s) with clinical features of dilated cardiomyopathy (PMID: 27532257). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 163 of the TNNI3 protein (p.Ala163Val).
GeneDx RCV001541094 SCV001759050 likely pathogenic not provided 2020-01-07 criteria provided, single submitter clinical testing Identified in association with DCM in published literature (Walsh et al., 2017), and a patient referred for cardiomyopathy genetic testing at GeneDx; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 177866; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27532257)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154504 SCV000204175 uncertain significance not specified 2013-01-23 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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