ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu)

gnomAD frequency: 0.00004  dbSNP: rs745950487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001855860 SCV002278677 uncertain significance Congenital primary aphakia; Anterior segment dysgenesis 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 202 of the FOXE3 protein (p.Pro202Leu). This variant is present in population databases (rs745950487, gnomAD 0.1%). This missense change has been observed in individual(s) with familial thoracic aortic aneurysm and/or dissection (PMID: 26854927). ClinVar contains an entry for this variant (Variation ID: 617854). 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 not expected to disrupt FOXE3 protein function with a negative predictive value of 80%. 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV000755154 SCV000882976 likely benign Congenital aneurysm of ascending aorta; Acute aortic dissection 2016-02-08 no assertion criteria provided research

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