ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.3G>C (p.Met1Ile)

dbSNP: rs1365446658
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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 RCV002018728 SCV002266548 likely pathogenic Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-06-30 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GYG1 mRNA. The next in-frame methionine is located at codon 47. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Disruption of the initiator codon has been observed in individual(s) with polyglucosan body myopathy (PMID: 27544502). 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.

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