ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.454G>C (p.Glu152Gln)

dbSNP: rs936531276
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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 RCV002034026 SCV002317169 uncertain significance Immunodeficiency 28 2021-02-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 152 of the IFNGR2 protein (p.Glu152Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine.

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