ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1489C>T (p.Arg497Ter) (rs775136381)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439016 SCV000517321 pathogenic not provided 2018-10-22 criteria provided, single submitter clinical testing The R497X nonsense variant in the FOXP1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). A protein truncating variant downstream of this position has been reported in the Human Gene Mutation Database in association with a FOXP1-related disorder (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants.

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