Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633434 | SCV000754659 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1155*) 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 premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 27225849). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 528301). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002499048 | SCV002811740 | likely pathogenic | Polycystic kidney disease 4 | 2022-04-14 | criteria provided, single submitter | clinical testing |