Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002536552 | SCV003523293 | uncertain significance | Congenital primary aphakia; Anterior segment dysgenesis | 2021-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 164 of the FOXE3 protein (p.Arg164Ser). This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 FOXE3 protein function. ClinVar contains an entry for this variant (Variation ID: 617851). This missense change has been observed in individual(s) with thoracic aortic aneurysms or dissections (PMID: 26854927). |
University of Washington Center for Mendelian Genomics, |
RCV000755151 | SCV000882973 | likely pathogenic | Congenital aneurysm of ascending aorta; Acute aortic dissection | 2016-02-08 | no assertion criteria provided | research |