Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002006205 | SCV002272435 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2021-07-06 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 29 of the PKHD1 gene. It does not directly change the encoded amino acid sequence of the PKHD1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 27225849). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Baylor Genetics | RCV003464361 | SCV004204804 | likely pathogenic | Polycystic kidney disease 4 | 2022-03-06 | criteria provided, single submitter | clinical testing |