Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236407 | SCV001409130 | uncertain significance | Immunodeficiency, common variable, 2 | 2019-07-31 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TNFRSF13B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 159 of the TNFRSF13B protein (p.Gln159His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |