ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.496G>A (p.Ala166Thr)

gnomAD frequency: 0.00004  dbSNP: rs552291982
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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 RCV001958083 SCV002216361 uncertain significance Immunodeficiency 28 2022-08-15 criteria provided, single submitter clinical testing 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: "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. ClinVar contains an entry for this variant (Variation ID: 1439278). This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. This variant is present in population databases (rs552291982, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 166 of the IFNGR2 protein (p.Ala166Thr).

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