ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.14A>G (p.Gln5Arg)

gnomAD frequency: 0.00001  dbSNP: rs762005656
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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 RCV002766391 SCV003027973 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs762005656, gnomAD 0.02%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 5 of the IFNAR2 protein (p.Gln5Arg). This variant has not been reported in the literature in individuals affected with IFNAR2-related conditions. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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