ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1497del (p.Ala500fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003523377 SCV004297418 pathogenic Polyglandular autoimmune syndrome, type 1 2023-04-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the AIRE protein in which other variant(s) (p.Pro539Leu) have been determined to be pathogenic (PMID: 11836330, 15811934, 17289071, 17675238). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with autoimmune polyendocrinopathy syndrome (PMID: 24158785). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala500Profs*21) in the AIRE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the AIRE protein.

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.