Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |
Prevention |
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. |