Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001999791 | SCV002231822 | pathogenic | not provided | 2022-09-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1452407). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs776554898, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg490*) 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). |