ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.785A>G (p.Gln262Arg)

dbSNP: rs2040517979
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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 RCV001067873 SCV001232955 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 262 of the AIRE protein (p.Gln262Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. 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. 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.

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