ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter)

dbSNP: rs367729718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900054 SCV002117919 pathogenic Hypertrophic cardiomyopathy 2021-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln921*) 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 (ExAC no frequency). This variant has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 30847666). For these reasons, this variant has been classified as Pathogenic.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003487012 SCV004239367 pathogenic Cardiomyopathy 2023-04-12 criteria provided, single submitter clinical testing

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