ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)

dbSNP: rs121909732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004797764 SCV005420056 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 9843361, 9469993, 35342475, 9571255)
OMIM RCV000017503 SCV000037775 pathogenic Hyperinsulinism-hyperammonemia syndrome 1998-12-01 no assertion criteria provided literature only

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