ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val) (rs370941975)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434041 SCV000519078 likely benign not specified 2015-09-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000539055 SCV000623622 uncertain significance Hypertrophic cardiomyopathy 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 267 of the MYBPC3 protein (p.Leu267Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs370941975, ExAC 0.08%). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 380700). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV000620272 SCV000740002 uncertain significance Cardiovascular phenotype 2016-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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