ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1507C>T (p.Arg503Ter) (rs797045584)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195136 SCV000247423 pathogenic Mental retardation with language impairment and with or without autistic features 2014-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000423150 SCV000535158 pathogenic not provided 2017-01-09 criteria provided, single submitter clinical testing The R503X variant in the FOXP1 gene has not been published 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 R503X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R503X as a pathogenic variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.