ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)

dbSNP: rs2058372554
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942146 SCV002236306 pathogenic Glycogen storage disease, type V 2023-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser430Cysfs*12) 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: 1454981). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001942146 SCV004207292 likely pathogenic Glycogen storage disease, type V 2023-01-22 criteria provided, single submitter clinical testing

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