ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.457A>G (p.Ser153Gly)

gnomAD frequency: 0.00032  dbSNP: rs200377867
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819972 SCV002071645 uncertain significance not specified 2019-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001277499 SCV003445393 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 153 of the AIRE protein (p.Ser153Gly). This variant is present in population databases (rs200377867, gnomAD 0.1%). 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: 989632). 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 tolerated. 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.
Ambry Genetics RCV003166600 SCV003873784 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.457A>G (p.S153G) alteration is located in exon 3 (coding exon 3) of the AIRE gene. This alteration results from a A to G substitution at nucleotide position 457, causing the serine (S) at amino acid position 153 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277499 SCV001464458 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-04-20 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754717 SCV005353021 uncertain significance AIRE-related disorder 2024-04-12 no assertion criteria provided clinical testing The AIRE c.457A>G variant is predicted to result in the amino acid substitution p.Ser153Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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