Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001862422 | SCV002304529 | uncertain significance | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CFB-related conditions. ClinVar contains an entry for this variant (Variation ID: 829882). This sequence change replaces arginine with cysteine at codon 143 of the CFB protein (p.Arg143Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). 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. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029828 | SCV001192612 | uncertain significance | Atypical hemolytic-uremic syndrome with B factor anomaly | 2019-08-13 | no assertion criteria provided | clinical testing |