Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001297291 | SCV001486299 | uncertain significance | not provided | 2020-02-11 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with aspartic acid at codon 95 of the CEP250 protein (p.Asn95Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid. 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: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with CEP250-related conditions. This variant is not present in population databases (ExAC no frequency). |