Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388864 | SCV001590014 | pathogenic | Autosomal recessive polycystic kidney disease | 2022-09-15 | criteria provided, single submitter | clinical testing | 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 create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1075305). This premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15805161, 27225849). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly619Alafs*3) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). |
Baylor Genetics | RCV003463023 | SCV004204775 | likely pathogenic | Polycystic kidney disease 4 | 2022-09-15 | criteria provided, single submitter | clinical testing |