ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.766G>A (p.Val256Ile)

dbSNP: rs753558091
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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 RCV000802507 SCV000942341 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-12-04 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 256 of the AIRE protein (p.Val256Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. 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 tolerated, 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 disease. This variant is not present in population databases (ExAC no frequency).

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