ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) (rs797045586)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623483 SCV000742859 likely pathogenic Inborn genetic diseases 2017-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Fulgent Genetics,Fulgent Genetics RCV000194178 SCV000894326 likely pathogenic Mental retardation with language impairment and with or without autistic features 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000478429 SCV000565020 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing The R514H variant in the FOXP1 gene has been reported previously as de novo in three unrelated individuals with features suggestive of FOXP1-related disorder (Sollis et al., 2017). Functional studies of R514H demonstrate abnormal nuclear localization of the protein and abnormal DNA binding (Sollis et al., 2017). The R514H variant is not observed in large population cohorts (Lek et al., 2016). We interpret R514H as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000194178 SCV000247425 pathogenic Mental retardation with language impairment and with or without autistic features 2016-04-25 criteria provided, single submitter clinical testing
Language and Genetics Department,Max Planck Institute for Psycholinguistics RCV000194178 SCV000493911 pathogenic Mental retardation with language impairment and with or without autistic features no assertion criteria provided clinical testing

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