ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly)

gnomAD frequency: 0.00001  dbSNP: rs752379833
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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 RCV004584208 SCV005068291 benign FOXG1 disorder 2024-02-23 reviewed by expert panel curation The allele frequency of the p.Ser462Gly variant in FOXG1 is 0.147% in South Asian sub population in gnomAD v2, 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). The Ser462Gly variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the p.Ser462Gly variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP5).
Genetic Services Laboratory, University of Chicago RCV000194286 SCV000247411 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054265 SCV002410699 benign Rett syndrome, congenital variant 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422095 SCV004129159 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FOXG1: PP2, BS1

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.