ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.931del (p.Cys311fs)

dbSNP: rs1555872755
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670655 SCV000795538 pathogenic Polyglandular autoimmune syndrome, type 1 2017-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670655 SCV002235491 pathogenic Polyglandular autoimmune syndrome, type 1 2023-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554933). This variant is also known as 1051delT. This premature translational stop signal has been observed in individual(s) with AIRE-related conditions (PMID: 10677297). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys311Valfs*67) in the AIRE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571).
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health RCV000670655 SCV004036202 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-14 criteria provided, single submitter clinical testing

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.