ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1329C>G (p.Tyr443Ter) (rs1064793944)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485765 SCV000567424 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The Y443X variant in the FOXP1 gene has not been reported previously as a pathogenic variant noras a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The Y443X variant was notobserved in approximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. We interpret Y443X asa pathogenic variant.

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