ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1477del (p.Leu493fs)

dbSNP: rs2058367842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233784 SCV001406394 pathogenic Glycogen storage disease, type V 2024-10-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu493Trpfs*46) in the PYGM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 960283). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001233784 SCV004238114 pathogenic Glycogen storage disease, type V 2023-05-24 criteria provided, single submitter clinical testing
Institute of Immunology and Genetics Kaiserslautern RCV001233784 SCV005382157 pathogenic Glycogen storage disease, type V 2023-07-19 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2, PP5; Variant was found in compound heterozygous state with NM_005609.4:c.148C>T.

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