ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.91C>T (p.Pro31Ser)

gnomAD frequency: 0.00001  dbSNP: rs750951592
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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 RCV002003285 SCV002268861 uncertain significance Immunodeficiency 28 2021-12-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFNGR2-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: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C25". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant is present in population databases (rs750951592, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 31 of the IFNGR2 protein (p.Pro31Ser).

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