ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)

dbSNP: rs2058376262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242446 SCV001415533 pathogenic Glycogen storage disease, type V 2023-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individuals with McArdle disease (PMID: 11168025, 29143597). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Trp388Serfs*34) 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).
Baylor Genetics RCV001242446 SCV004207259 pathogenic Glycogen storage disease, type V 2023-06-20 criteria provided, single submitter clinical testing
OMIM RCV001242446 SCV000022559 pathogenic Glycogen storage disease, type V 2001-01-01 no assertion criteria provided literature only

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