ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) (rs148157138)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, ClinGen RCV001507039 SCV001711988 benign FOXG1 disorder 2021-03-26 reviewed by expert panel curation The allele frequency of the p.Gly168Ala variant in FOXG1 is 0.18% in African sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). Computational analysis prediction tools suggest that the p.Gly168Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly168Ala variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP4).
GeneDx RCV001704986 SCV000241036 benign not provided 2019-10-25 criteria provided, single submitter clinical testing
Invitae RCV000540363 SCV000650052 likely benign Rett syndrome, congenital variant 2020-09-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000187444 SCV000709200 likely benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719539 SCV000850407 benign History of neurodevelopmental disorder 2019-04-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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.