ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.844dup (p.Tyr282fs)

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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 RCV002816373 SCV003210076 pathogenic Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-08-06 criteria provided, single submitter clinical testing This variant disrupts a region of the GYG1 protein in which other variant(s) (p.Tyr332*) have been determined to be pathogenic (PMID: 29264399). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr282Leufs*11) in the GYG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the GYG1 protein. For these reasons, this variant has been classified as Pathogenic.

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