ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.440del (p.Pro147fs)

dbSNP: rs1595849931
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805641 SCV000945604 pathogenic Hypertrophic cardiomyopathy 2024-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro147Leufs*12) 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 variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 650481). For these reasons, this variant has been classified as Pathogenic.

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