ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.497G>C (p.Gly166Ala)

dbSNP: rs760578111
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001247494 SCV001420920 uncertain significance Rett syndrome, congenital variant 2019-11-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FOXG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 166 of the FOXG1 protein (p.Gly166Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.