Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701469 | SCV000830271 | pathogenic | Nephronophthisis 18 | 2021-05-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg630*) in the CEP83 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP83 are known to be pathogenic (PMID: 23530209, 24882706). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CEP83-related conditions. ClinVar contains an entry for this variant (Variation ID: 578457). |