Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411938 | SCV000485496 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2015-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411938 | SCV000754658 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-05-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 370239). This missense change has been observed in individuals with autosomal recessive polycystic kidney disease (PMID: 15698423, 29956005). This variant is present in population databases (rs777999875, gnomAD 0.004%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1838 of the PKHD1 protein (p.Tyr1838Cys). |
Fulgent Genetics, |
RCV002488836 | SCV002786253 | pathogenic | Polycystic kidney disease 4 | 2022-02-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002488836 | SCV004204657 | likely pathogenic | Polycystic kidney disease 4 | 2023-05-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000411938 | SCV002078078 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-09-06 | no assertion criteria provided | clinical testing |