Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000498382 | SCV000589822 | likely pathogenic | not provided | 2016-04-05 | criteria provided, single submitter | clinical testing | The S3099X variant in the PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S3099X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S3099X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
| Baylor Genetics | RCV003464070 | SCV004204593 | likely pathogenic | Polycystic kidney disease 4 | 2023-08-03 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001829415 | SCV004531317 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-02-28 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs757946548, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 432135). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This sequence change creates a premature translational stop signal (p.Ser3099*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). |
| Natera, |
RCV001829415 | SCV002077955 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-03-16 | no assertion criteria provided | clinical testing |