Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002944089 | SCV003286796 | pathogenic | not provided | 2022-03-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CEP250-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1791Glyfs*6) 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). |