ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)

gnomAD frequency: 0.00002  dbSNP: rs779510704
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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 RCV000696381 SCV000824941 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 485 of the AIRE protein (p.Glu485Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs779510704, ExAC 0.006%). 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Natera, Inc. RCV000696381 SCV002076135 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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