ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1253G>A (p.Arg418Gln)

gnomAD frequency: 0.00008  dbSNP: rs142523418
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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 RCV001361628 SCV001557607 uncertain significance Immunodeficiency 39 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 431 of the IRF7 protein (p.Arg431Gln). This variant is present in population databases (rs142523418, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053300). 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.
Ambry Genetics RCV004036808 SCV004889366 uncertain significance not specified 2024-01-04 criteria provided, single submitter clinical testing The c.1292G>A (p.R431Q) alteration is located in exon 8 (coding exon 8) of the IRF7 gene. This alteration results from a G to A substitution at nucleotide position 1292, causing the arginine (R) at amino acid position 431 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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