ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter)

dbSNP: rs866898746
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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 RCV001939218 SCV002224422 pathogenic Polyglandular autoimmune syndrome, type 1 2020-11-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with AIRE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly477*) 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).

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