ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1507del (p.Val503fs)

dbSNP: rs1272600960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383627 SCV001582846 pathogenic Glycogen storage disease, type V 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val503Serfs*36) 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 present in population databases (no rsID available, gnomAD 0.007%). 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: 1071212). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001383627 SCV004238609 likely pathogenic Glycogen storage disease, type V 2023-08-11 criteria provided, single submitter clinical testing

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