Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223409 | SCV001395558 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-04-09 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with polycystic kidney disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 951480). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 41 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). |
Baylor Genetics | RCV003469389 | SCV004204700 | likely pathogenic | Polycystic kidney disease 4 | 2023-03-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001223409 | SCV002078039 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2019-11-11 | no assertion criteria provided | clinical testing |