ClinVar Miner

Submissions for variant NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) (rs1559834349)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690080 SCV000817757 pathogenic Glycogen storage disease XV; Polyglucosan body myopathy 2 2018-03-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu52*) in the GYG1 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 not been reported in the literature in individuals with GYG1-related disease. Loss-of-function variants in GYG1 are known to be pathogenic (PMID: 20357282, 25272951). For these reasons, this variant has been classified as Pathogenic.

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