ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.751G>C (p.Ala251Pro)

gnomAD frequency: 0.00009  dbSNP: rs888494437
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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 RCV000653172 SCV000775048 uncertain significance Immunodeficiency 39 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 264 of the IRF7 protein (p.Ala264Pro). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 542690). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
PreventionGenetics, part of Exact Sciences RCV003403503 SCV004118864 uncertain significance IRF7-related disorder 2022-11-07 criteria provided, single submitter clinical testing The IRF7 c.790G>C variant is predicted to result in the amino acid substitution p.Ala264Pro. This variant was reported in an individual with juvenile idiopathic arthritis (Supplemental Table S6, Meng et al. 2021. PubMed ID: 33408077). This variant is reported in 0.0044% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-613966-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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