ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.2T>A (p.Met1Lys)

gnomAD frequency: 0.00001  dbSNP: rs1176650262
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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 RCV002016172 SCV002299492 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-10-13 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1508529). Disruption of the initiator codon has been observed in individual(s) with GYG1-related conditions (PMID: 27544502). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change affects the initiator methionine of the GYG1 mRNA. The next in-frame methionine is located at codon 47.

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