Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169507 | SCV000220972 | pathogenic | Autosomal recessive polycystic kidney disease | 2014-12-22 | criteria provided, single submitter | literature only | |
Invitae | RCV000169507 | SCV001403649 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 627 of the PKHD1 protein (p.Met627Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal recessive polycystic kidney disease (PMID: 15805161, 25193386). It is commonly reported in individuals of South African Afrikaner ancestry (PMID: 15805161). ClinVar contains an entry for this variant (Variation ID: 189098). 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. For these reasons, this variant has been classified as Pathogenic. |
Division of Human Genetics, |
RCV003398869 | SCV004123075 | pathogenic | Polycystic kidney disease 4 | 2023-07-01 | criteria provided, single submitter | research | |
Laboratory of Gastroenterology and Hepatology, |
RCV001844813 | SCV001876991 | likely pathogenic | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research | |
Natera, |
RCV000169507 | SCV002081058 | pathogenic | Autosomal recessive polycystic kidney disease | 2017-03-16 | no assertion criteria provided | clinical testing |