ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.703del (p.Leu235fs)

dbSNP: rs1064793481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485796 SCV000566233 pathogenic not provided 2015-04-14 criteria provided, single submitter clinical testing The c.703delC deletion in the FOXG1 gene causes a frameshift starting with codon Leucine 235, changesthis amino acid to a Serine residue and creates a premature Stop codon at position 6 of the new reading frame,denoted p.Leu235SerfsX6. This variant replaces the last 255 amino acid residues with 5 incorrect aminoacid residues and is predicted to cause loss of normal protein function through protein truncation. Althoughthis deletion has not been previously reported to our knowledge, other frameshift variants in the FOXG1protein have been reported in the Human Gene Mutation Database in association with FOXG1-relateddisorders (Stenson et al., 2014). Therefore the c.703delC variant is interpreted as pathogenic.

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.