ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.299G>C (p.Arg100Pro)

gnomAD frequency: 0.00007  dbSNP: rs752300122
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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 RCV000698192 SCV000826841 uncertain significance Immunodeficiency 39 2022-05-12 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 113 of the IRF7 protein (p.Arg113Pro). This variant is present in population databases (rs752300122, gnomAD 0.005%). 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: 575853). 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 RCV004026434 SCV003722747 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.338G>C (p.R113P) alteration is located in exon 2 (coding exon 2) of the IRF7 gene. This alteration results from a G to C substitution at nucleotide position 338, causing the arginine (R) at amino acid position 113 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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