Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695075 | SCV000823553 | pathogenic | Polyglandular autoimmune syndrome, type 1 | 2023-04-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu320Trpfs*58) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 573407). This premature translational stop signal has been observed in individual(s) with autoimmune polyendocrine syndrome type 1 (PMID: 21865375). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
National Institute of Allergy and Infectious Diseases - |
RCV000695075 | SCV004036172 | pathogenic | Polyglandular autoimmune syndrome, type 1 | 2023-09-14 | criteria provided, single submitter | clinical testing |