ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser)

dbSNP: rs1391534565
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Total submissions: 2
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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, University of Washington RCV000755151 SCV000882973 likely pathogenic Congenital aneurysm of ascending aorta; Acute aortic dissection 2016-02-08 no assertion criteria provided research

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