ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002667975 SCV002979679 pathogenic Polyglandular autoimmune syndrome, type 1 2022-08-04 criteria provided, single submitter clinical testing 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. This sequence change creates a premature translational stop signal (p.Thr183Argfs*196) 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 (gnomAD no frequency).

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