Submissions for variant NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala)

gnomAD frequency: 0.00048  dbSNP: rs148157138

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV001507039	SCV001711988	benign	FOXG1 disorder	2021-03-26	reviewed by expert panel	curation	The allele frequency of the p.Gly168Ala variant in FOXG1 is 0.18% in African 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). Computational analysis prediction tools suggest that the p.Gly168Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly168Ala variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP4).
GeneDx	RCV001704986	SCV000241036	benign	not provided	2019-10-25	criteria provided, single submitter	clinical testing
Invitae	RCV000540363	SCV000650052	likely benign	Rett syndrome, congenital variant	2024-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000187444	SCV000709200	likely benign	not specified	2017-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317097	SCV000850407	benign	Inborn genetic diseases	2019-04-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV001704986	SCV004129156	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FOXG1: PP2, BS1
PreventionGenetics, part of Exact Sciences	RCV003947570	SCV004760075	likely benign	FOXG1-related condition	2021-06-01	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).