ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.125G>A (p.Arg42His)

dbSNP: rs1057520715
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429080 SCV000517068 likely pathogenic not provided 2024-12-05 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: 31886927, 29193623, 23884777, 34765856)

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