Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048012 | SCV001212001 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-04-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 845029). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs765934021, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln3636*) 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). |