ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1358T>G (p.Leu453Arg)

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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 RCV003751269 SCV004532009 uncertain significance Immunodeficiency 39 2023-06-21 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 466 of the IRF7 protein (p.Leu466Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IRF7-related conditions.

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