Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700513 | SCV000829271 | pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 113 of the SOX2 protein (p.Arg113Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SOX2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 577696). 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 SOX2 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |