ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1948del (p.Arg650fs)

dbSNP: rs2058354383
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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 RCV001239494 SCV001412370 pathogenic Glycogen storage disease, type V 2022-05-13 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with glycogen storage disease type V (also known as McArdle disease) (PMID: 21802952). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg650Glufs*8) 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). ClinVar contains an entry for this variant (Variation ID: 965127). For these reasons, this variant has been classified as Pathogenic.

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