ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.3G>A (p.Met1Ile)

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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 RCV003498270 SCV004364944 pathogenic Glycogen storage disease, type V 2023-12-22 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PYGM mRNA. The next in-frame methionine is located at codon 92. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with McArdle’s disease (PMID: 7951262, 9506549, 25740218, 28967462). For these reasons, this variant has been classified as Pathogenic.

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