ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)

dbSNP: rs1057516272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411673 SCV000485393 likely pathogenic Polyglandular autoimmune syndrome, type 1 2015-12-14 criteria provided, single submitter clinical testing
Invitae RCV000411673 SCV004398980 pathogenic Polyglandular autoimmune syndrome, type 1 2023-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu53*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 370150). For these reasons, this variant has been classified as Pathogenic.

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