ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp) (rs752007810)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554970 SCV000623559 uncertain significance Hypertrophic cardiomyopathy 2017-04-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 834 of the MYBPC3 protein (p.Arg834Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs752007810, ExAC 0.009%). This variant has been reported in the literature in an individual that suffered sudden cardiac death (PMID: 27114410), and it was reported in an individual with hypertrophic cardiomyopathy (HCM) (PMID: 14563344). However, in one individual, one pathogenic allele was identified in the MYBPC3 gene, which suggests that this c.2500C>T substitution in MYBPC3 was not the primary cause of disease in that individual. 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. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625023 SCV000743552 uncertain significance Familial hypertrophic cardiomyopathy 4 2016-12-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625023 SCV000744839 uncertain significance Familial hypertrophic cardiomyopathy 4 2017-05-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994630 SCV001148272 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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