ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1279C>T (p.Arg427Cys)

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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 RCV003752526 SCV004465358 uncertain significance Immunodeficiency 39 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 440 of the IRF7 protein (p.Arg440Cys). This variant is present in population databases (rs201165872, gnomAD 0.01%). This missense change has been observed in individual(s) with autoinflammatory syndrome (PMID: 33225392). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IRF7 protein function with a negative predictive value of 80%. 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.

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