ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.518_521del (p.Asp173fs)

dbSNP: rs2146211217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553000 SCV001773794 pathogenic not provided 2024-08-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33657695, 37669316, 23533243)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001553000 SCV005196612 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing

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