ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.560C>G (p.Ser187Ter)

dbSNP: rs143952576
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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 RCV001388127 SCV001588997 pathogenic Polyglandular autoimmune syndrome, type 1 2023-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser187*) 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 autoimmune polyendocrine syndrome type 1 (PMID: 30287219). ClinVar contains an entry for this variant (Variation ID: 1074719). For these reasons, this variant has been classified as Pathogenic.

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