Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001971259 | SCV002258845 | uncertain significance | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 67 of the CEP250 protein (p.Arg67Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs754042296, ExAC 0.002%). 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 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"). 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 | RCV004042259 | SCV003943151 | uncertain significance | not specified | 2023-05-03 | criteria provided, single submitter | clinical testing | The c.200G>A (p.R67Q) alteration is located in exon 5 (coding exon 2) of the CEP250 gene. This alteration results from a G to A substitution at nucleotide position 200, causing the arginine (R) at amino acid position 67 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |