ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.538G>A (p.Gly180Arg)

gnomAD frequency: 0.00014  dbSNP: rs200899780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687732 SCV000815317 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-09-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 180 of the AIRE protein (p.Gly180Arg). This variant is present in population databases (rs200899780, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 567597). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV000687732 SCV002777685 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-05-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000687732 SCV001460104 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-04-20 no assertion criteria provided clinical testing

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