Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729058 | SCV000856694 | uncertain significance | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000729058 | SCV001154767 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001239749 | SCV001412646 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2024-01-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3221 of the PKHD1 protein (p.Pro3221Leu). This variant is present in population databases (rs145141656, gnomAD 0.1%). This missense change has been observed in individual(s) with clinical features of polycystic kidney disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 593890). 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 expected to disrupt PKHD1 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Gene |
RCV000729058 | SCV001989600 | uncertain significance | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002485863 | SCV002776687 | uncertain significance | Polycystic kidney disease 4 | 2022-04-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026962 | SCV005005335 | uncertain significance | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.9662C>T (p.P3221L) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 9662, causing the proline (P) at amino acid position 3221 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001239749 | SCV002077940 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-03 | no assertion criteria provided | clinical testing |