Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000665889 | SCV000790084 | likely pathogenic | Polyglandular autoimmune syndrome, type 1 | 2017-03-06 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000665889 | SCV002287265 | likely pathogenic | Polyglandular autoimmune syndrome, type 1 | 2022-10-28 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs138489664, gnomAD 0.01%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 550974). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This sequence change affects a donor splice site in intron 6 of the AIRE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). |