Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673461 | SCV000798665 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673461 | SCV000815226 | pathogenic | Autosomal recessive polycystic kidney disease | 2019-03-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant has not been reported in the literature in individuals with PKHD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp4*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. |