ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1476T>A (p.Tyr492Ter) (rs1559616778)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760898 SCV000890794 pathogenic not provided 2019-01-07 criteria provided, single submitter clinical testing The Y492X variant in the FOXP1 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 Y492X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y492X as a pathogenic variant.

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