Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002033947 | SCV002314957 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid with glutamine at codon 1314 of the CEP250 protein (p.Glu1314Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. ClinVar contains an entry for this variant (Variation ID: 1521485). 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"). |