Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002994331 | SCV003297045 | uncertain significance | not provided | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1078 of the CEP250 protein (p.Arg1078Gln). This variant is present in population databases (rs551110184, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Ambry Genetics | RCV004065284 | SCV004925212 | uncertain significance | not specified | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.3233G>A (p.R1078Q) alteration is located in exon 25 (coding exon 22) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 3233, causing the arginine (R) at amino acid position 1078 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |