Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792244 | SCV000931525 | pathogenic | Autosomal dominant polycystic kidney disease | 2018-11-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). This variant has not been reported in the literature in individuals with PKD2-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Glu158Glyfs*75) in the PKD2 gene. It is expected to result in an absent or disrupted protein product. |