ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)

dbSNP: rs1601963938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788290 SCV000927347 likely pathogenic not provided 2017-07-19 criteria provided, single submitter clinical testing
Invitae RCV000821835 SCV000962607 pathogenic Polyglandular autoimmune syndrome, type 1 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg15Hisfs*5) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive AIRE-related conditions (PMID: 18682433, 19863576, 27646917). ClinVar contains an entry for this variant (Variation ID: 636457). For these reasons, this variant has been classified as Pathogenic.

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