ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.724T>A (p.Ser242Thr)

gnomAD frequency: 0.00004  dbSNP: rs145216430
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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 RCV001931048 SCV002195044 uncertain significance Immunodeficiency 28 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 242 of the IFNGR2 protein (p.Ser242Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs145216430, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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