Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692933 | SCV000820784 | pathogenic | Nephronophthisis 15 | 2023-08-07 | 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. Loss-of-function variants in CEP164 are known to be pathogenic (PMID: 22863007, 28125082, 32367404, 34132027, 34499853). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 571715). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs764893412, gnomAD 0.007%). |
Fulgent Genetics, |
RCV000692933 | SCV002813215 | likely pathogenic | Nephronophthisis 15 | 2022-03-14 | criteria provided, single submitter | clinical testing |