ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.914C>T (p.Ala305Val)

dbSNP: rs893539360
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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 RCV000820162 SCV000960861 uncertain significance Immunodeficiency 28 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 305 of the IFNGR2 protein (p.Ala305Val). 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 valine 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: 662505). This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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