ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.21-16G>A

gnomAD frequency: 0.00006  dbSNP: rs368180035
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686198 SCV000813704 uncertain significance Immunodeficiency 39 2023-06-27 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 15 of the IRF7 protein (p.Arg15Gln). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 566397). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs368180035, gnomAD 0.01%).
Ambry Genetics RCV004026228 SCV004889370 uncertain significance not specified 2024-02-28 criteria provided, single submitter clinical testing The c.44G>A (p.R15Q) alteration is located in exon 1 (coding exon 1) of the IRF7 gene. This alteration results from a G to A substitution at nucleotide position 44, causing the arginine (R) at amino acid position 15 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.