ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp)

gnomAD frequency: 0.00002  dbSNP: rs921069738
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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 RCV001040600 SCV001204184 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 445 of the AIRE protein (p.Arg445Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Probably 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. RCV001040600 SCV001457189 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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