ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.8C>G (p.Pro3Arg)

gnomAD frequency: 0.00007  dbSNP: rs773084508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001991719 SCV002286261 uncertain significance Immunodeficiency 28 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3 of the IFNGR2 protein (p.Pro3Arg). This variant is present in population databases (rs773084508, gnomAD 0.03%). 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: 1496111). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.

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