ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.971-2A>G

dbSNP: rs886039383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255276 SCV000321740 pathogenic not provided 2016-01-27 criteria provided, single submitter clinical testing The c.971-2A>G variant in the GNAS gene has not been reported previously as a pathogenic or as a benign substitution, to our knowledge. This variant destroys the canonical splice acceptor site in intron 11. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.971-2A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. While the c.971-2A>G variant has not previously been described, another pathogenic variant in the canonical splice acceptor site of intron 11 (c.971-1G>A) has been reported in the Human Gene Mutation Database in association with pseudohypoparathyroidism type 1a. We interpret c.971-2A>G as a pathogenic variant.

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