Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001220424 | SCV001392412 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-09-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe2970Trpfs*68) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 19914852). ClinVar contains an entry for this variant (Variation ID: 949045). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV002272417 | SCV002558309 | pathogenic | not provided | 2022-02-02 | criteria provided, single submitter | clinical testing | Observed with a second variant (phase unknown) in two siblings with nonperinatal presented polycystic kidney disease and congenital hepatic fibrosis in published literature (Gunay-Aygun et al., 2010); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19914852) |
Baylor Genetics | RCV003462749 | SCV004204603 | pathogenic | Polycystic kidney disease 4 | 2023-07-29 | criteria provided, single submitter | clinical testing |