Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001904436 | SCV002124469 | pathogenic | Polyglandular autoimmune syndrome, type 1 | 2021-08-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln290Serfs*88) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV001904436 | SCV002602223 | likely pathogenic | Polyglandular autoimmune syndrome, type 1 | 2021-12-21 | criteria provided, single submitter | clinical testing | NM_000383.3(AIRE):c.868delC(Q290Sfs*88) is expected to be pathogenic in the context of autoimmune polyglandular syndrome type 1. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in AIRE, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |