Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001070589 | SCV001235848 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-07-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 863593). This premature translational stop signal has been observed in individuals with autosomal recessive polycystic kidney disease (PMID: 27225849). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln2708*) 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). |
| Baylor Genetics | RCV003469264 | SCV004204762 | pathogenic | Polycystic kidney disease 4 | 2022-11-02 | criteria provided, single submitter | clinical testing | |
| Laboratory of Gastroenterology and Hepatology, |
RCV001844851 | SCV001876962 | pathogenic | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research |