ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.314C>T (p.Thr105Ile)

dbSNP: rs767946220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817674 SCV002072221 likely pathogenic not provided 2017-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001817674 SCV005079272 likely pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing Apparently de novo variant in a patient with pseudohypoparathyroidism type Ia in the published published literature (PMID: 29095814, 35296306); 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: 29095814, 35296306)

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