Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001247354 | SCV001420769 | pathogenic | Nephronophthisis 15 | 2024-11-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln737*) 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). This variant is present in population databases (rs562932233, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 971548). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001247354 | SCV002811630 | likely pathogenic | Nephronophthisis 15 | 2021-12-23 | criteria provided, single submitter | clinical testing |