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 ClinVar contains an entry for this variant (Variation ID: 180973). 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 variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). 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).
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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