ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.589A>T (p.Ile197Phe)

gnomAD frequency: 0.00001  dbSNP: rs749339064
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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 RCV002032017 SCV002309816 uncertain significance Immunodeficiency 28 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 197 of the IFNGR2 protein (p.Ile197Phe). This variant is present in population databases (rs749339064, gnomAD 0.005%). 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: 1524851). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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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