ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1268G>C (p.Arg423Pro)

gnomAD frequency: 0.00022  dbSNP: rs149039709
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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 RCV000540199 SCV000656488 uncertain significance Immunodeficiency 39 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 436 of the IRF7 protein (p.Arg436Pro). This variant is present in population databases (rs149039709, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 476071). 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.
Fulgent Genetics, Fulgent Genetics RCV000540199 SCV002785387 uncertain significance Immunodeficiency 39 2022-05-23 criteria provided, single submitter clinical testing

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