ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter)

dbSNP: rs587777561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000128840 SCV001419140 pathogenic Polyglucosan body myopathy type 1 2019-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln264*) in the RBCK1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an family affected with progressive muscular weakness and cardiomyopathy (PMID: 23889995). This variant is also known as p.Q222X in the literature. ClinVar contains an entry for this variant (Variation ID: 140629). Loss-of-function variants in RBCK1 are known to be pathogenic (PMID:23104095, 2379848, 23889995). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001840049 SCV000172496 pathogenic Polyglucosan body myopathy 1 without immunodeficiency 2013-01-01 no assertion criteria provided literature only

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