ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg)

dbSNP: rs2146383548
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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 RCV001897446 SCV002149423 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-09-18 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 407 of the AIRE protein (p.Pro407Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine.

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