Submissions for variant NM_000256.3(MYBPC3):c.1765C>T (p.Arg589Cys) (rs1329919535)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000617974	SCV000740170	uncertain significance	Cardiovascular phenotype	2017-05-30	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient evidence
Invitae	RCV000817221	SCV000957771	uncertain significance	Hypertrophic cardiomyopathy	2018-09-26	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with cysteine at codon 589 of the MYBPC3 protein (p.Arg589Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hypertrophic cardiomyopathy (PMID: 25351510, 28790153, 28408708). ClinVar contains an entry for this variant (Variation ID: 520358). 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. 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.

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