ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.140_141insC (p.Ser47_Asp48insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018243 SCV004848916 likely pathogenic Hypertrophic cardiomyopathy 2023-02-02 criteria provided, single submitter clinical testing The p.Asp48X in MYBPC3 has not been reported in individuals with hypertrophic cardiomyopathy and was absent from large population databases. This nonsense variant leads to a premature termination codon at position 48, which is predicted to lead to a truncated or absent protein. Loss of function of the MYBPC3 gene is an established disease mechanism hypertrophic cardiomyopathy. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant hypertrophic cardiomyopathy. ACMG/AMP criteria applied: PVS1, PM2_Supporting.

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