ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1452G>A (p.Trp484Ter)

dbSNP: rs1554314595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599260 SCV000710438 pathogenic not provided 2018-01-31 criteria provided, single submitter clinical testing The W484X variant in the GLI3 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 W484X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W484X as a pathogenic variant.

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