ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)

dbSNP: rs2122333654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508876 SCV001715304 likely pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing PVS1, PM2_supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV001865947 SCV002236452 pathogenic Polyglucosan body myopathy type 1 2021-10-24 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: 1163637). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg421Cysfs*16) 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).

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