Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001342688 | SCV001536633 | uncertain significance | not provided | 2020-03-05 | criteria provided, single submitter | clinical testing | 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with CEP250-related conditions. This variant is present in population databases (rs753684828, ExAC 0.02%). This sequence change replaces serine with arginine at codon 2186 of the CEP250 protein (p.Ser2186Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. |