ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.683del (p.Thr228fs)

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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 RCV002586797 SCV002948644 pathogenic Glycogen storage disease XV; Polyglucosan body myopathy type 2 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr228Lysfs*13) in the GYG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYG1 are known to be pathogenic (PMID: 20357282, 25272951). This variant is present in population databases (rs747627650, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1906288). For these reasons, this variant has been classified as Pathogenic.

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