Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673409 | SCV000798608 | pathogenic | Autosomal recessive polycystic kidney disease | 2018-03-21 | criteria provided, single submitter | clinical testing | |
| Molecular Biology Laboratory, |
RCV000673409 | SCV001425232 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-02-01 | criteria provided, single submitter | research | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000673409 | SCV001554610 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-03-30 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.6383delT (p.Leu2128X) 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 allele was found at a frequency of 4e-06 in 249998 control chromosomes. c.6383delT has been reported in the literature in individuals affected with Polycystic Kidney And Hepatic Disease (example, Rossetti_2003, Krall_2014). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory and another research curator have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003472155 | SCV004202279 | pathogenic | Polycystic kidney disease 4 | 2023-09-22 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000673409 | SCV004293750 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-09-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2128*) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with polycystic kidney disease (PMID: 12846734, 15805161, 25701400). ClinVar contains an entry for this variant (Variation ID: 557288). For these reasons, this variant has been classified as Pathogenic. |
| Natera, |
RCV000673409 | SCV002078049 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-08-31 | no assertion criteria provided | clinical testing |