ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.506A>G (p.Tyr169Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004590691 SCV005078294 uncertain significance not provided 2023-10-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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

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