ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.489del (p.Lys164fs)

dbSNP: rs746101086
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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 RCV001388926 SCV001590080 pathogenic Polyglandular autoimmune syndrome, type 1 2021-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys164Argfs*214) in the AIRE gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AIRE-related conditions. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). For these reasons, this variant has been classified as Pathogenic.

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