ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.784C>T (p.Gln262Ter)

dbSNP: rs886039677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254856 SCV000322618 pathogenic not provided 2016-06-21 criteria provided, single submitter clinical testing The Q262X pathogenic variant in the GNAS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q262X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Thus, we interpret Q262X as a pathogenic variant.

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