Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003427875 | SCV004117181 | pathogenic | PKHD1-related disorder | 2022-11-28 | criteria provided, single submitter | clinical testing | The PKHD1 c.1492delC variant is predicted to result in a frameshift and premature protein termination (p.Gln498Argfs*9). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKHD1 are expected to be pathogenic, and therefore this variant is interpreted as pathogenic. |
Baylor Genetics | RCV003459859 | SCV004204605 | likely pathogenic | Polycystic kidney disease 4 | 2023-07-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003611647 | SCV004422084 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-01-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln498Argfs*9) 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). |