ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.469C>T (p.Gln157Ter)

dbSNP: rs1488613451
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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 RCV000687271 SCV000814830 pathogenic Polyglandular autoimmune syndrome, type 1 2018-04-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with AIRE-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln157*) in the AIRE gene. It is expected to result in an absent or disrupted protein product.

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