Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001892652 | SCV002151426 | uncertain significance | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 1177 of the CEP250 protein (p.Gln1177Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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: "Possibly 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 | RCV004041295 | SCV003747633 | uncertain significance | not specified | 2022-04-13 | criteria provided, single submitter | clinical testing | The c.3530A>C (p.Q1177P) alteration is located in exon 26 (coding exon 23) of the CEP250 gene. This alteration results from a A to C substitution at nucleotide position 3530, causing the glutamine (Q) at amino acid position 1177 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |