ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)

dbSNP: rs397515932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788736 SCV000927958 likely pathogenic not provided 2018-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000788736 SCV002758943 likely pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing Has been reported in association with cardiomyopathy or HCM (Alfares et al., 2015; Waldmuller et al., 011; Walsh et al., 2014; Grondin et al, 2-21); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21750094, 25611685, 27532257, 33673806, 35352813)
Labcorp Genetics (formerly Invitae), Labcorp RCV000151111 SCV003268856 pathogenic Hypertrophic cardiomyopathy 2021-12-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 164095). This premature translational stop signal has been observed in individual(s) with hypertrophic or dilated cardiomyopathy (PMID: 21750094, 25611685, 27532257, 33673806). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys623*) 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).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486668 SCV004239348 pathogenic Cardiomyopathy 2022-12-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151111 SCV000198877 pathogenic Hypertrophic cardiomyopathy 2013-03-04 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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