ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.20+39G>C

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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 RCV002623640 SCV003506486 uncertain significance Immunodeficiency 39 2022-10-17 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 5 of the IRF7 protein (p.Glu5Gln).
Ambry Genetics RCV004070477 SCV003634254 uncertain significance not specified 2022-06-13 criteria provided, single submitter clinical testing The c.13G>C (p.E5Q) alteration is located in exon 1 (coding exon 1) of the IRF7 gene. This alteration results from a G to C substitution at nucleotide position 13, causing the glutamic acid (E) at amino acid position 5 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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