ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)

dbSNP: rs786200975
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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 RCV003235073 SCV003933688 likely benign FOXG1 disorder 2023-04-17 reviewed by expert panel curation The c.234_236dup (p.Pro79_Pro80insPro) variant is observed in at least 2 unaffected individuals (GeneDx internal database)(BS2). The c.234_236dup variant is an in-frame duplication present in a repetitive region of FOXG1 (BP3). The c.234_236dup variant is found in a patient with an alternate molecular basis of disease (GeneDx internal database) (BP5). In summary, the c.234_236dup (p.Pro79_Pro80insPro) variant in FOXG1 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP3, BP5).
Eurofins Ntd Llc (ga) RCV000153263 SCV000202738 uncertain significance not provided 2015-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000153263 SCV000241029 benign not provided 2019-12-13 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000408882 SCV000484840 likely benign Rett syndrome, congenital variant 2016-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000187438 SCV000594857 likely benign not specified 2016-04-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000408882 SCV000650046 benign Rett syndrome, congenital variant 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312991 SCV000847889 likely benign Inborn genetic diseases 2017-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000153263 SCV004129153 benign not provided 2024-05-01 criteria provided, single submitter clinical testing FOXG1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003907447 SCV004726887 likely benign FOXG1-related disorder 2023-08-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.