Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648106 | SCV000769916 | uncertain significance | Common variable immunodeficiency 1 | 2020-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 134 of the ICOS protein (p.Gln134Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs367905290, ExAC 0.03%). This variant has not been reported in the literature in individuals with ICOS-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: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). 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. 5 |
Ce |
RCV000658897 | SCV000780697 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing |