ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.533del (p.Val178fs)

dbSNP: rs727503217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000151164 SCV001375854 pathogenic Hypertrophic cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val178Glyfs*7) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 25611685). ClinVar contains an entry for this variant (Variation ID: 164148). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151164 SCV000198967 pathogenic Hypertrophic cardiomyopathy 2013-03-05 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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