ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter)

dbSNP: rs796052463
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 RCV000187457 SCV000241050 pathogenic not provided 2019-05-28 criteria provided, single submitter clinical testing Previously reported in a patient with myoclonic seizures, absent speech, inability to walk, and no functional hand use (Seltzer et al., 2014); Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30533527, 24836831, 27640358)
Institute of Human Genetics, University of Leipzig Medical Center RCV001781546 SCV002026248 pathogenic Rett syndrome, congenital variant 2018-01-20 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004558436 SCV005046857 pathogenic FOXG1 disorder 2024-05-10 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD v4 (PM2_Supporting). Has been observed in at least 2 individuals with phenotypes consistent with FOXG1 disorder (PS4_Supporting). PMID:24836831 PMID:28661489 Variation ID: 205486

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.