Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002943608 | SCV003277693 | uncertain significance | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with arginine at codon 1771 of the CEP250 protein (p.Leu1771Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs376251518, gnomAD 0.003%). 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 | RCV004068101 | SCV003676090 | uncertain significance | not specified | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.5312T>G (p.L1771R) alteration is located in exon 30 (coding exon 27) of the CEP250 gene. This alteration results from a T to G substitution at nucleotide position 5312, causing the leucine (L) at amino acid position 1771 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |