ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) (rs267606826)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760384 SCV000890248 pathogenic not provided 2018-08-10 criteria provided, single submitter clinical testing The Y208X nonsense variant in the FOXG1 gene has been reported previously as a de novo variant in a child with severe microcephaly, epileptic encephalopathy, developmental delay and regression, and hypotonia (Mencarelli at al., 2010). The Y208X variant is not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The presence of the Y208X variant is consistent with the diagnosis of Rett syndrome in this individual.
OMIM RCV000014883 SCV000035138 pathogenic Rett syndrome, congenital variant 2010-01-01 no assertion criteria provided literature only
RettBASE RCV000014883 SCV000222391 pathogenic Rett syndrome, congenital variant 2013-06-12 no assertion criteria provided curation

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.