Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066696 | SCV001231712 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-05-01 | criteria provided, single submitter | clinical testing | This variant disrupts a region of the PKHD1 protein in which other variant(s) (p.Arg3961*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 860404). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs747170980, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu3877Argfs*54) in the PKHD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 198 amino acid(s) of the PKHD1 protein. |
Baylor Genetics | RCV003473690 | SCV004202212 | pathogenic | Polycystic kidney disease 4 | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001066696 | SCV002075475 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-06-08 | no assertion criteria provided | clinical testing |