Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001999799 | SCV002233056 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-03-03 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 37 (c.5909-46_5943del) of the PKHD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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. This variant disrupts the p.Gly1979 amino acid residue in PKHD1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22882926, 31813136). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV004571707 | SCV005056311 | likely pathogenic | Polycystic kidney disease 4 | 2024-02-24 | criteria provided, single submitter | clinical testing |