ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.748A>T (p.Ser250Cys)

gnomAD frequency: 0.00016  dbSNP: rs141480813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242405 SCV001415491 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 250 of the AIRE protein (p.Ser250Cys). This variant is present in population databases (rs141480813, gnomAD 0.05%). This missense change has been observed in individual(s) with autoimmunity and immunodeficiency (PMID: 25068407). ClinVar contains an entry for this variant (Variation ID: 967483). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001242405 SCV002782400 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001242405 SCV002083872 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-03-17 no assertion criteria provided clinical testing

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