Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000802077 | SCV000941891 | uncertain significance | Immunodeficiency 104 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with glutamic acid at codon 114 of the IL7R protein (p.Lys114Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs771667604, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with IL7R-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid 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. |
| Ambry Genetics | RCV003279078 | SCV003978855 | uncertain significance | Inborn genetic diseases | 2023-05-15 | criteria provided, single submitter | clinical testing | The c.340A>G (p.K114E) alteration is located in exon 3 (coding exon 3) of the IL7R gene. This alteration results from a A to G substitution at nucleotide position 340, causing the lysine (K) at amino acid position 114 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |