Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003636673 | SCV004531623 | uncertain significance | Polyglandular autoimmune syndrome, type 1 | 2023-09-11 | criteria provided, single submitter | clinical testing | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AIRE protein function. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 89 of the AIRE protein (p.Arg89Leu). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. 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 | RCV004374189 | SCV004879793 | uncertain significance | Inborn genetic diseases | 2023-12-13 | criteria provided, single submitter | clinical testing | The c.266G>T (p.R89L) alteration is located in exon 2 (coding exon 2) of the AIRE gene. This alteration results from a G to T substitution at nucleotide position 266, causing the arginine (R) at amino acid position 89 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |