ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.582+1G>C

dbSNP: rs1017046170
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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 RCV000815854 SCV000956329 pathogenic Polyglucosan body myopathy type 1 2018-12-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the RBCK1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RBCK1 are known to be pathogenic (PMID: 2379848, 23104095, 23889995). This variant has been observed to segregate with clinical features of polyglucosan body myopathy in  individuals and a family (PMID: 23889995, Invitae). This variant is not present in population databases (ExAC no frequency).

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