Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001979029 | SCV002227493 | pathogenic | not provided | 2023-04-27 | 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: 1441102). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. This variant is present in population databases (rs774612231, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg1343*) 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). |