ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2171G>A (p.Arg724Gln)

gnomAD frequency: 0.00002  dbSNP: rs756102881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770338 SCV000901772 uncertain significance Cardiomyopathy 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV001869068 SCV002312349 uncertain significance Hypertrophic cardiomyopathy 2022-09-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 724 of the MYBPC3 protein (p.Arg724Gln). This variant is present in population databases (rs756102881, gnomAD 0.005%). 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: 626762). 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. 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.

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