ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.793G>A (p.Ala265Thr)

gnomAD frequency: 0.00024  dbSNP: rs140835367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820447 SCV002071346 uncertain significance not specified 2019-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542624 SCV003272601 uncertain significance Polyglandular autoimmune syndrome, type 1 2025-01-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 265 of the AIRE protein (p.Ala265Thr). This variant is present in population databases (rs140835367, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1337433). 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) indicates that this missense variant is not expected to disrupt AIRE protein function with a negative predictive value of 95%. 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 RCV004040986 SCV004879832 uncertain significance Inborn genetic diseases 2023-10-05 criteria provided, single submitter clinical testing The c.793G>A (p.A265T) alteration is located in exon 6 (coding exon 6) of the AIRE gene. This alteration results from a G to A substitution at nucleotide position 793, causing the alanine (A) at amino acid position 265 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003968580 SCV004779665 uncertain significance AIRE-related disorder 2024-01-30 no assertion criteria provided clinical testing The AIRE c.793G>A variant is predicted to result in the amino acid substitution p.Ala265Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.046% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.