ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.376C>T (p.Arg126Trp)

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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 RCV002948406 SCV003274873 uncertain significance Immunodeficiency 39 2022-08-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IRF7-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 139 of the IRF7 protein (p.Arg139Trp).

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