ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3147C>G (p.Tyr1049Ter) (rs779898173)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578645 SCV000681237 pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The Y1049X nonsense variant in the GLI3 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Y1049X variant is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we consider Y1049X to be pathogenic.

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