ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.727A>G (p.Lys243Glu)

dbSNP: rs2040517102
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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 RCV001298261 SCV001487308 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-02-17 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 lysine with glutamic acid at codon 243 of the AIRE protein (p.Lys243Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.
Natera, Inc. RCV001298261 SCV002083871 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-07-07 no assertion criteria provided clinical testing

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