Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001384608 | SCV001584165 | pathogenic | Autosomal recessive polycystic kidney disease | 2020-08-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with lysine at codon 997 of the PKHD1 protein (p.Met997Lys). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and lysine. This variant has been observed in individual(s) with polycystic kidney disease (PMID: 12506140). It has also been observed to segregate with disease in related individuals. 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. |
Revvity Omics, |
RCV003492252 | SCV004236087 | uncertain significance | Polycystic kidney disease 4 | 2024-01-11 | criteria provided, single submitter | clinical testing |