Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598488 | SCV000709051 | pathogenic | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000408967 | SCV000894385 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000408967 | SCV003439445 | pathogenic | Autosomal recessive polycystic kidney disease | 2024-01-31 | 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 755 of the PKHD1 protein (p.Pro755Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 15698423, 24162162, 31730820). 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: 371292). 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%. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003463802 | SCV004204689 | likely pathogenic | Polycystic kidney disease 4 | 2023-04-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000408967 | SCV000486839 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2016-08-22 | no assertion criteria provided | clinical testing |