Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692933 | SCV000820784 | pathogenic | Nephronophthisis 15 | 2018-01-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg897*) in the CEP164 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764893412, ExAC 0.007%). This variant has not been reported in the literature in individuals with CEP164-related disease. Loss-of-function variants in CEP164 are known to be pathogenic (PMID: 22863007). For these reasons, this variant has been classified as Pathogenic. |