Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045332 | SCV001209173 | uncertain significance | Immunodeficiency, common variable, 7 | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with tyrosine at codon 704 of the CR2 protein (p.Cys704Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs374563684, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with CR2-related conditions. 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. |