ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) (rs137854535)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000017306 SCV000586752 pathogenic Pseudopseudohypoparathyroidism 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability; small stature
Eurofins NTD, LLC RCV000595336 SCV000702092 uncertain significance not provided 2016-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001265731 SCV001443900 pathogenic Inborn genetic diseases 2018-05-17 criteria provided, single submitter clinical testing
Genetics of Obesity Study,University of Cambridge RCV001731308 SCV001573818 pathogenic Pseudohypoparathyroidism type I A 2020-06-01 criteria provided, single submitter research
GeneDx RCV000595336 SCV002007492 pathogenic not provided 2021-07-02 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect as R258W causes a specific defect in activation (Warner et al., 1998); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 9727013, 31886927, 27535533, 28708303)
OMIM RCV000017306 SCV000037578 pathogenic Pseudopseudohypoparathyroidism 1998-09-11 no assertion criteria provided literature only

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