ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) (rs377669670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Toulouse RCV000521849 SCV000579340 likely pathogenic Congenital primary aphakia 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV001062090 SCV001226866 uncertain significance Congenital primary aphakia; Anterior segment dysgenesis 2019-05-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 78 of the FOXE3 protein (p.Ala78Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs377669670, ExAC 0.03%). This variant has been observed to segregate with autosomal recessive microphthalmia in a family and has been reported in combination with another FOXE3 variant in an unrelated individual affected with this disease (PMID: 29136273). ClinVar contains an entry for this variant (Variation ID: 427852). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Human Developmental Genetics Laboratory,Medical College of Wisconsin RCV000521849 SCV001593178 pathogenic Congenital primary aphakia 2021-05-01 no assertion criteria provided research

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