ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1373A>G (p.His458Arg)

dbSNP: rs1601969955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818935 SCV000959573 uncertain significance Polyglandular autoimmune syndrome, type 1 2018-12-29 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with AIRE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with arginine at codon 458 of the AIRE protein (p.His458Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine.
Natera, Inc. RCV000818935 SCV001464226 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-01-24 no assertion criteria provided clinical testing

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