ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.575_580CGCCCG[1] (p.192_193AP[1])

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000845078 SCV000986921 not provided Anterior segment mesenchymal dysgenesis; Congenital primary aphakia; Thoracic aortic aneurysm and aortic dissection no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 11/02/2018 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000811991 SCV000952289 uncertain significance Anterior segment mesenchymal dysgenesis; Congenital primary aphakia 2018-12-04 criteria provided, single submitter clinical testing This variant, c.581_586delCGCCCG, results in the deletion of 2 amino acid(s) of the FOXE3 protein (p.Ala194_Pro195del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with FOXE3-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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