ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1066dup (p.Arg356fs)

dbSNP: rs1555872879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000667023 SCV004451538 pathogenic Polyglandular autoimmune syndrome, type 1 2024-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg356Profs*16) 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). 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: 551864). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000667023 SCV000791410 likely pathogenic Polyglandular autoimmune syndrome, type 1 2017-05-10 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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