Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002646453 | SCV002973351 | pathogenic | Autosomal recessive polycystic kidney disease | 2022-08-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu3550Argfs*18) 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. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003464577 | SCV004204718 | likely pathogenic | Polycystic kidney disease 4 | 2023-03-04 | criteria provided, single submitter | clinical testing |