ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2035C>A (p.Pro679Thr)

dbSNP: rs372493586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294808 SCV001483703 uncertain significance Hypertrophic cardiomyopathy 2020-03-11 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYBPC3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 679 of the MYBPC3 protein (p.Pro679Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.
GeneDx RCV001751557 SCV001996731 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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