ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.663del (p.Glu222fs)

dbSNP: rs2122245228
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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 RCV001389444 SCV001590817 pathogenic Polyglucosan body myopathy type 1 2022-06-04 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: 1075761). 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.Glu222Argfs*54) 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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