Submissions for variant NM_005249.5(FOXG1):c.447C>T (p.Ala149=)

gnomAD frequency: 0.00126  dbSNP: rs112803404

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV002281058	SCV002569934	benign	FOXG1 disorder	2022-08-25	reviewed by expert panel	curation	The allele frequency of the p.Ala149= variant in FOXG1 is 0.227% in European (Non-Finnish) 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). The silent p.Ala149= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Ala149= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP7).
GeneDx	RCV000415955	SCV000168582	benign	not provided	2019-09-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145989	SCV000193138	benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000145989	SCV000224472	likely benign	not specified	2016-04-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415955	SCV000493531	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FOXG1: BP4, BP7, BS1
Invitae	RCV000545830	SCV000650049	benign	Rett syndrome, congenital variant	2024-01-22	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000545830	SCV000745497	likely benign	Rett syndrome, congenital variant	2017-08-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316366	SCV000851227	likely benign	Inborn genetic diseases	2016-09-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003905199	SCV004725394	likely benign	FOXG1-related condition	2019-08-27	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000545830	SCV000733375	likely benign	Rett syndrome, congenital variant		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000415955	SCV001957892	likely benign	not provided		no assertion criteria provided	clinical testing