Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169599 | SCV000221111 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2015-02-03 | criteria provided, single submitter | literature only | |
| Baylor Genetics | RCV000169599 | SCV001163067 | pathogenic | Autosomal recessive polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000169599 | SCV001361896 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2022-12-06 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.1458C>A (p.Tyr486X) 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 251268 control chromosomes (gnomAD). c.1458C>A has been reported in the literature in individuals affected with Polycystic Kidney and Hepatic Disease (Gunay-Aygun_2010, Gunay-Aygun_2011). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Invitae | RCV000169599 | SCV003439396 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-01-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr486*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189171). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 19914852). This variant is present in population databases (rs786204749, gnomAD 0.0009%). |
| Baylor Genetics | RCV003462270 | SCV004204607 | pathogenic | Polycystic kidney disease 4 | 2023-07-22 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV000169599 | SCV002081080 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-11-10 | no assertion criteria provided | clinical testing |