ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003092141 SCV003480550 uncertain significance Congenital primary aphakia; Anterior segment dysgenesis 2024-09-02 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 168 of the FOXE3 protein (p.Lys168Gln). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FOXE3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2167511). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FOXE3 protein function. 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.
Ambry Genetics RCV004073199 SCV005025951 uncertain significance Cardiovascular phenotype 2023-12-29 criteria provided, single submitter clinical testing The p.K168Q variant (also known as c.502A>C), located in coding exon 1 of the FOXE3 gene, results from an A to C substitution at nucleotide position 502. The lysine at codon 168 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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