Submissions for variant NM_005249.5(FOXG1):c.456G>T (p.Gly152=)

gnomAD frequency: 0.00020  dbSNP: rs587783637

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	RCV003235068	SCV003933684	benign	FOXG1 disorder	2023-04-14	reviewed by expert panel	curation	The allele frequency of the p.Gly152= variant in FOXG1 is 0.04% 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). In summary, the p.Gly152= variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1).
Genetic Services Laboratory, University of Chicago	RCV000145990	SCV000193139	uncertain significance	Rett syndrome, congenital variant	2014-03-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000518741	SCV000613349	likely benign	not specified	2017-01-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727603	SCV000854853	uncertain significance	not provided	2018-03-29	criteria provided, single submitter	clinical testing
Invitae	RCV000145990	SCV001007279	likely benign	Rett syndrome, congenital variant	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000727603	SCV001831790	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975148	SCV004786958	likely benign	FOXG1-related condition	2022-12-20	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).