ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.115C>T (p.Arg39Cys)

gnomAD frequency: 0.00003  dbSNP: rs572786148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823561 SCV000964423 uncertain significance Immunodeficiency 28 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 39 of the IFNGR2 protein (p.Arg39Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs572786148, ExAC 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
CeGaT Center for Human Genetics Tuebingen RCV003437440 SCV004153114 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing IFNGR2: BP4

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