ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) (rs142788946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029311 SCV000051957 likely pathogenic Polyglandular autoimmune syndrome, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000029311 SCV000951384 uncertain significance Polyglandular autoimmune syndrome, type 1 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 114 of the AIRE protein (p.Lys114Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs142788946, ExAC 0.03%). This variant has not been reported in the literature in individuals with AIRE-related disease. ClinVar contains an entry for this variant (Variation ID: 35663). 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. 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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