ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)

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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 RCV002796901 SCV003197737 pathogenic Polyglucosan body myopathy type 1 2022-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln258*) in the RBCK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RBCK1 are known to be pathogenic (PMID: 2379848, 23104095, 23889995). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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