ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1271del (p.Gly424fs)

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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 RCV003637381 SCV004428830 pathogenic Polyglandular autoimmune syndrome, type 1 2023-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly424Valfs*56) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is not present in population databases (gnomAD no frequency).

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