ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)

dbSNP: rs121909734
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000211493 SCV000268510 pathogenic Hyperinsulinism-hyperammonemia syndrome 2016-02-22 criteria provided, single submitter clinical testing Pathogenic mutations in the GLUD1 gene are known to cause the hyperinsulinism-hyperammonemia syndrome. Another variant in the same codon (p.(Gly499Ser)) has been reported to cause the same pathology.

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