ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.141CCA[4] (p.His55_His57del)

dbSNP: rs587783630
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 RCV004698423 SCV005200086 benign FOXG1 disorder 2024-06-25 reviewed by expert panel curation The highest population minor allele frequency of the c.153_161del (p.His55_His57del) variant in FOXG1 in gnomAD v4.1 is 0.00023 in the Middle Eastern population, which is higher than the ClinGen Rett and Angelman-like Disorders VCEP threshold (≥0.00008) for BS1, and therefore meets this criterion (BS1). The p.His55_His57del variant is observed in at least 2 unaffected individuals (Internal database - Invitae, Internal database - GeneDx) (BS2). The p.His55_His57del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). In summary, the p.His55_His57del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BS1, BS2, BP3).
GeneDx RCV000187427 SCV000241015 likely benign not specified 2014-10-27 criteria provided, single submitter clinical testing The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000554007 SCV000650043 likely benign Rett syndrome, congenital variant 2023-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399697 SCV002706644 likely benign Inborn genetic diseases 2018-06-13 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.

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.