ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2876C>T (p.Thr959Met)

dbSNP: rs730880697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158450 SCV000208385 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001219101 SCV001391022 uncertain significance Hypertrophic cardiomyopathy 2019-04-05 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; 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. This variant has not been reported in the literature in individuals with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 181131). This variant is present in population databases (rs730880697, ExAC 0.009%). This sequence change replaces threonine with methionine at codon 959 of the MYBPC3 protein (p.Thr959Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine.

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