ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2300A>G (p.Lys767Arg) (rs760786216)

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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 RCV000619049 SCV000740130 uncertain significance Cardiovascular phenotype 2017-03-07 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000629013 SCV000749923 uncertain significance Hypertrophic cardiomyopathy 2017-11-20 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 767 of the MYBPC3 protein (p.Lys767Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs760786216, ExAC 0.01%). This variant has been reported in individuals affected with hyperthrophic cardiomyopathy and dilated cardiomyopathy (PMID: 27532257). 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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