ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu)

gnomAD frequency: 0.00001  dbSNP: rs751271727
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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 RCV001363552 SCV001559668 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 430 of the AIRE protein (p.Pro430Leu). This variant is present in population databases (rs751271727, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054956). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001363552 SCV002076123 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-06-08 no assertion criteria provided clinical testing

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