Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000412096 | SCV000487211 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-10-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000412096 | SCV001586826 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-09-27 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371594). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr938Serfs*9) 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). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000412096 | SCV002600819 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2022-10-03 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.2813delA (p.Tyr938SerfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251102 control chromosomes. To our knowledge, no occurrence of c.2813delA in individuals affected with Polycystic Kidney And Hepatic Disease and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV003475973 | SCV004202258 | likely pathogenic | Polycystic kidney disease 4 | 2023-10-06 | criteria provided, single submitter | clinical testing |