ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) (rs397516033)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197693 SCV000254438 uncertain significance Hypertrophic cardiomyopathy 2015-03-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1226 of the MYBPC3 protein (p.Arg1226Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant has not been published in the literature and is present in population databases (rs397516033, 0.03%). ClinVar contains an entry for this variant (RCV000035606). 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 is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000244340 SCV000320349 uncertain significance Cardiovascular phenotype 2015-11-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035606 SCV000059257 uncertain significance not specified 2008-03-01 no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786363 SCV000925160 uncertain significance not provided 2015-11-12 no assertion criteria provided provider interpretation

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