ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp)

gnomAD frequency: 0.00001  dbSNP: rs1208287091
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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 RCV001226520 SCV001398836 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 424 of the AIRE protein (p.Gly424Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. RCV001226520 SCV002076118 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-05-27 no assertion criteria provided clinical testing

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