ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.260T>C (p.Leu87Pro)

dbSNP: rs2040485564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LACE Laboratorios RCV001248832 SCV001142859 likely pathogenic Polyglandular autoimmune syndrome, type 1 2019-10-10 criteria provided, single submitter clinical testing This is the first report of the NM_000383.2:c.260T>C mutation, which results in the Leu87Pro variant, which is associated with autosomal recessive APECED. The pediatric patient displays maternal inheritence of the Leu87Pro variant and paternal inheritance of the p.Leu323fs variant. The pediatric patient exhibits a clinical diagnosis of APECED, presence of anti-omega antibodies and immunologic deregulation since birth. The mutation occurs in a region of the protein in which numerous single nucleotide variants produce alleles with lack of function (Trp78Arg, Val80Leu, Lys83Glu, Tyr85Cys, Tyr90Cyc, Leu93Arg, and Leu97Pro), and are proposed to inhibit proper dimerization of the AIRE protein.

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