ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.395_408del (p.Leu132fs)

dbSNP: rs1565538121
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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 RCV000821091 SCV000961834 pathogenic Glycogen storage disease, type V 2021-04-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu132Profs*10) in the PYGM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PYGM-related disease. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000821091 SCV002793167 likely pathogenic Glycogen storage disease, type V 2022-03-11 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722868 SCV000853999 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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