ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.898A>T (p.Lys300Ter)

dbSNP: rs1555891743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519224 SCV000619070 pathogenic not provided 2017-07-24 criteria provided, single submitter clinical testing The K300X 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 K300X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret K300X as a pathogenic variant.

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