Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001785288 | SCV002026237 | pathogenic | Rett syndrome, congenital variant | 2018-01-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001785288 | SCV002211447 | pathogenic | Rett syndrome, congenital variant | 2021-12-13 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 181 of the FOXG1 protein (p.Lys181Asn). This missense change has been observed in individual(s) with FOXG1-related conditions (PMID: 26938784, 28661489). In at least one individual the variant was observed to be de novo. 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 variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. |