ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.224G>C (p.Arg75Thr)

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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 RCV003073761 SCV003448197 uncertain significance Immunodeficiency 39 2022-11-23 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs779855922, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 88 of the IRF7 protein (p.Arg88Thr).

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