ClinVar Miner

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

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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 2018-12-15 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in several individuals affected with AIRE-related conditions (PMID: 27646917, 19863576, 18682433). 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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