Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695442 | SCV000823940 | pathogenic | Autosomal dominant polycystic kidney disease | 2018-05-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu442*) in the PKD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PKD2-related disease. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). |