Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003020332 | SCV003329679 | pathogenic | not provided | 2022-11-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs768511308, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp1304*) in the CEP250 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP250 are known to be pathogenic (PMID: 24780881, 29718797). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CEP250-related conditions. |