ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.162del (p.Lys54fs)

dbSNP: rs864622224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204099 SCV000259772 pathogenic Hypertrophic cardiomyopathy 2024-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys54Asnfs*13) 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: 28615295, 28771489). ClinVar contains an entry for this variant (Variation ID: 219730). For these reasons, this variant has been classified as Pathogenic.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798677 SCV002042135 pathogenic Cardiomyopathy 2020-05-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553116 SCV004112116 pathogenic MYBPC3-related disorder 2023-04-14 criteria provided, single submitter clinical testing The MYBPC3 c.162delG variant is predicted to result in a frameshift and premature protein termination (p.Lys54Asnfs*13). This variant was reported in individuals with hypertrophic cardiomyopathy (Table S2, Ross et al. 2017. PubMed ID: 28615295; Mademont-Soler et al. 2017. PubMed ID: 28771489). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MYBPC3 are expected to be pathogenic. This variant is interpreted as pathogenic.
GeneDx RCV004719752 SCV005324818 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing Identified in patients with HCM referred for genetic testing at GeneDx and in published literature (PMID: 28615295, 36252119, 28771489); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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: 28615295, 36243179, 36252119, 28771489)

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