ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter)

dbSNP: rs1568554654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812501 SCV000952816 pathogenic Polyglucosan body myopathy type 1 2023-08-01 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: 656156). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg109*) 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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