ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.616A>G (p.Arg206Gly)

gnomAD frequency: 0.00009  dbSNP: rs147894635
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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 RCV000686316 SCV000813830 uncertain significance Immunodeficiency 28 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 206 of the IFNGR2 protein (p.Arg206Gly). This variant is present in population databases (rs147894635, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 566491). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004985071 SCV005604151 uncertain significance Inborn genetic diseases 2024-08-12 criteria provided, single submitter clinical testing The c.616A>G (p.R206G) alteration is located in exon 5 (coding exon 5) of the IFNGR2 gene. This alteration results from a A to G substitution at nucleotide position 616, causing the arginine (R) at amino acid position 206 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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