Submissions for variant NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del)

dbSNP: rs794726920

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV001507041	SCV001711990	benign	FOXG1 disorder	2021-03-26	reviewed by expert panel	curation	The allele frequency of the p.Q70_P77del variant in FOXG1 is 0.03% 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 p.Q70_P77del variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Q70_P77del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). The p.Q70_P77del variant is found in at least 3 patients with an alternate molecular basis of disease (internal database) (BP5_strong). In summary, the p.Q70_P77del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP3, BP5_strong).
Eurofins Ntd Llc (ga)	RCV000187434	SCV000224473	likely benign	not specified	2015-05-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001704246	SCV000241025	benign	not provided	2019-12-16	criteria provided, single submitter	clinical testing
Invitae	RCV000576291	SCV000677041	likely benign	Rett syndrome, congenital variant	2023-12-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316989	SCV000850602	likely benign	Inborn genetic diseases	2018-08-28	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	RCV003947461	SCV004769868	likely benign	FOXG1-related condition	2021-09-27	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).