ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)

dbSNP: rs1294286511
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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 RCV001308253 SCV001497693 uncertain significance Hyperinsulinism-hyperammonemia syndrome 2021-04-16 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GLUD1 mRNA. The next in-frame methionine is located at codon 69. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with GLUD1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1010602). This variant is not present in population databases (ExAC no frequency).

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