Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153721 | SCV000203279 | uncertain significance | not provided | 2014-03-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765890 | SCV000897300 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001331698 | SCV001523794 | uncertain significance | Polycystic kidney disease 4 | 2019-11-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000765890 | SCV003516905 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-08-18 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 727 of the PKHD1 protein (p.Asn727Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 16133180, 31395954; Invitae). 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: 167492). 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 not expected to disrupt PKHD1 protein function. For these reasons, this variant has been classified as Pathogenic. |