ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)

dbSNP: rs727503764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000128836 SCV001150234 pathogenic Polyglucosan body myopathy type 1 2019-06-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV000128836 SCV002103072 pathogenic Polyglucosan body myopathy type 1 2021-02-08 criteria provided, single submitter clinical testing PVS1, PS4_moderate, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000128836 SCV003443938 pathogenic Polyglucosan body myopathy type 1 2022-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 140625). This premature translational stop signal has been observed in individuals with clinical features of polyglucosan body myopathy with or without immunodeficiency (PMID: 23798481, 29260357, 31407473). This variant is present in population databases (rs727503764, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Glu299Valfs*46) 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).
OMIM RCV000128836 SCV000172492 pathogenic Polyglucosan body myopathy type 1 2013-12-01 no assertion criteria provided literature only

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