ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)

dbSNP: rs754932526
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
GeneDx RCV001589902 SCV001823800 uncertain significance not provided 2020-06-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729959 SCV001976935 likely pathogenic Polyglandular autoimmune syndrome, type 1 2021-10-01 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001729959 SCV004523016 uncertain significance Polyglandular autoimmune syndrome, type 1 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 306 of the AIRE protein (p.Gly306Arg). This variant is present in population databases (rs754932526, gnomAD 0.007%). This missense change has been observed in individual(s) with AIRE-related conditions (PMID: 34008892). ClinVar contains an entry for this variant (Variation ID: 1217643). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AIRE protein function with a positive 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.

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.