Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648141 | SCV000769955 | uncertain significance | Common variable immunodeficiency 2 | 2017-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 178 of the TNFRSF13B protein (p.Phe178Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs764319738, ExAC 0.002%). This variant has not been reported in the literature in individuals with TNFRSF13B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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. |