Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233887 | SCV000937364 | uncertain significance | Congenital primary aphakia; Anterior segment dysgenesis | 2023-08-03 | 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 298 of the FOXE3 protein (p.Pro298Leu). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 643964). This variant has not been reported in the literature in individuals affected with FOXE3-related conditions. This variant is not present in population databases (gnomAD no frequency). |