ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr)

gnomAD frequency: 0.00001  dbSNP: rs1296392334
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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 RCV001952423 SCV002198580 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 432 of the AIRE protein (p.Ala432Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004731204 SCV005339504 uncertain significance AIRE-related disorder 2024-09-17 no assertion criteria provided clinical testing The AIRE c.1294G>A variant is predicted to result in the amino acid substitution p.Ala432Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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