ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) (rs771929829)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478526 SCV000565272 likely pathogenic not provided 2017-02-13 criteria provided, single submitter clinical testing The C249X likely pathogenic variant in the MYBPC3 gene has not been reported as a pathogenic or benign to our knowledge. C249X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Multiple other downstream nonsense variants in the MYBPC3 gene have been reported in Human Gene Mutation Database in association with HCM (Stenson et al., 2014). Furthermore, the C249X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV000694565 SCV000823016 pathogenic Hypertrophic cardiomyopathy 2018-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys249*) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hypertrophic cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 418352). Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). For these reasons, this variant has been classified as Pathogenic.

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