Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002791502 | SCV003196789 | pathogenic | Rett syndrome, congenital variant | 2022-06-13 | criteria provided, single submitter | clinical testing | 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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. |
Center for Genomic Medicine, |
RCV002791502 | SCV004809990 | likely pathogenic | Rett syndrome, congenital variant | 2024-04-04 | criteria provided, single submitter | clinical testing |