Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412217 | SCV000486166 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412217 | SCV004319846 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-08-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly2566*) 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 not present in population databases (gnomAD no frequency). 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: 370767). For these reasons, this variant has been classified as Pathogenic. |