ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.682C>T (p.Pro228Ser)

gnomAD frequency: 0.00006  dbSNP: rs553220620
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937526 SCV002136569 uncertain significance Immunodeficiency 39 2023-07-12 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1364750). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs553220620, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 241 of the IRF7 protein (p.Pro241Ser).

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