Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001876534 | SCV002125502 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-08-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr2131Leufs*43) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003464170 | SCV004204770 | likely pathogenic | Polycystic kidney disease 4 | 2022-09-29 | criteria provided, single submitter | clinical testing |