ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1154G>A (p.Arg385His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229204 SCV003925896 likely pathogenic not provided 2022-11-16 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect: R385H causes a coupling receptor defect (Schwindinger et al., 1994); 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: 18250541, 31886927, 7523385, 11588148)

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