Submissions for variant NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002791502	SCV003196789	pathogenic	Rett syndrome, congenital variant	2022-06-13	criteria provided, single submitter	clinical testing	Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FOXG1 protein function. This missense change has been observed in individual(s) with clinical features of FOXG1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 264 of the FOXG1 protein (p.Val264Gly). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV002791502	SCV004809990	likely pathogenic	Rett syndrome, congenital variant	2024-04-04	criteria provided, single submitter	clinical testing