Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000412407 | SCV000487105 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-10-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000412407 | SCV001163008 | pathogenic | Autosomal recessive polycystic kidney disease | criteria provided, single submitter | clinical testing | ||
| Baylor Genetics | RCV003470353 | SCV004204602 | pathogenic | Polycystic kidney disease 4 | 2023-07-29 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000412407 | SCV004531322 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-06-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val3926Trpfs*5) in the PKHD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 149 amino acid(s) of the PKHD1 protein. 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. 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. ClinVar contains an entry for this variant (Variation ID: 371506). |