ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.977C>T (p.Pro326Leu)

gnomAD frequency: 0.00003  dbSNP: rs202237583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234430 SCV001407075 uncertain significance Immunodeficiency 28 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 326 of the IFNGR2 protein (p.Pro326Leu). This variant is present in population databases (rs202237583, gnomAD 0.01%). 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: 960830). 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: "Possibly 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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