Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000704782 | SCV000833746 | pathogenic | Nephronophthisis 15 | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys128Glnfs*77) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 581067). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000704782 | SCV002794301 | likely pathogenic | Nephronophthisis 15 | 2022-01-02 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV003128654 | SCV003806050 | likely pathogenic | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |