Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667097 | SCV000791494 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-05-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667097 | SCV001225803 | pathogenic | Autosomal recessive polycystic kidney disease | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 307 of the PKHD1 protein (p.Ile307Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15108281, 19914852). 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: 551925). 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. For these reasons, this variant has been classified as Pathogenic. |
Natera, |
RCV000667097 | SCV002083381 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-08-31 | no assertion criteria provided | clinical testing |