ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1128C>A (p.Ser376Arg)

dbSNP: rs1555122453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525732 SCV000623517 uncertain significance Hypertrophic cardiomyopathy 2017-04-29 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYBPC3-related disease. This sequence change replaces serine with arginine at codon 376 of the MYBPC3 protein (p.Ser376Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine.
GeneDx RCV002279323 SCV002567673 uncertain significance not provided 2022-02-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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