ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.2T>C (p.Met1Thr)

dbSNP: rs2058423391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244574 SCV001417803 likely pathogenic Glycogen storage disease, type V 2019-09-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Disruption of the initiator codon has been observed in individuals affected with glycogen storage disease, aka polyglucosan body myopathy (PMID: 7951262, 9506549, 25740218). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the PYGM mRNA. The next in-frame methionine is located at codon 92.
Natera, Inc. RCV001244574 SCV002092358 likely pathogenic Glycogen storage disease, type V 2020-10-30 no assertion criteria provided clinical testing

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