Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732634 | SCV000860609 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732634 | SCV001872671 | uncertain significance | not provided | 2021-07-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001830626 | SCV002251775 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-10-27 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 596715). 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 replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1025 of the PKHD1 protein (p.Glu1025Gln). |
Fulgent Genetics, |
RCV002477717 | SCV002789957 | uncertain significance | Polycystic kidney disease 4 | 2022-05-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001830626 | SCV002081005 | uncertain significance | Autosomal recessive polycystic kidney disease | 2019-03-15 | no assertion criteria provided | clinical testing |