Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517702 | SCV000614573 | pathogenic | not provided | 2016-10-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000559148 | SCV000658974 | pathogenic | Autosomal dominant polycystic kidney disease | 2017-06-16 | 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 a PKD2-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asp172Thrfs*61) in the PKD2 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV000517702 | SCV004031692 | pathogenic | not provided | 2023-03-03 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |