Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671679 | SCV000796678 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671679 | SCV001387436 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly466 amino acid residue in PKHD1. Other variant(s) that disrupt this residue have been observed in individuals with PKHD1-related conditions (PMID: 28933340, 29520754), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 555789). This missense change has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 20413436, 27225849, 27752906). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 466 of the PKHD1 protein (p.Gly466Glu). |
Revvity Omics, |
RCV001784272 | SCV002024652 | likely pathogenic | Polycystic kidney disease 4 | 2021-02-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001784272 | SCV002801684 | pathogenic | Polycystic kidney disease 4 | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002509503 | SCV002819040 | likely pathogenic | not provided | 2023-01-05 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27225849, 19914852) |
Baylor Genetics | RCV001784272 | SCV004204727 | pathogenic | Polycystic kidney disease 4 | 2023-02-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671679 | SCV002081083 | pathogenic | Autosomal recessive polycystic kidney disease | 2021-04-21 | no assertion criteria provided | clinical testing |