ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu)

dbSNP: rs397515907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003151749 SCV003840642 likely pathogenic not provided 2023-03-03 criteria provided, single submitter clinical testing Reported in association with hypertrophic cardiomyopathy (Walsh et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20378854, 27535533, 27532257)
Invitae RCV003586145 SCV004294806 uncertain significance Hypertrophic cardiomyopathy 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 502 of the MYBPC3 protein (p.Arg502Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with MYBPC3-related conditions (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 164112). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg502 amino acid residue in MYBPC3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9562578, 22386539). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151129 SCV000198909 uncertain significance not specified 2013-02-11 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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