ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly)

dbSNP: rs727504345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001850207 SCV002282463 uncertain significance Hypertrophic cardiomyopathy 2022-04-28 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 845 of the MYBPC3 protein (p.Arg845Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 180973).
All of Us Research Program, National Institutes of Health RCV001850207 SCV004827127 uncertain significance Hypertrophic cardiomyopathy 2023-06-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV001541900 SCV001760544 uncertain significance Cardiomyopathy no assertion criteria provided clinical testing

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