ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.494G>C (p.Gly165Ala)

gnomAD frequency: 0.00002  dbSNP: rs768564343
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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 RCV000803587 SCV000943466 uncertain significance Immunodeficiency 39 2022-01-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine 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. ClinVar contains an entry for this variant (Variation ID: 648782). This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (rs768564343, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 178 of the IRF7 protein (p.Gly178Ala).

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