ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.747del (p.Ser249fs)

dbSNP: rs2146379302
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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 RCV001390187 SCV001591824 pathogenic Polyglandular autoimmune syndrome, type 1 2020-08-14 criteria provided, single submitter clinical testing Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). This variant has not been reported in the literature in individuals with AIRE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser249Argfs*129) in the AIRE gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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