Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179216 | SCV000231427 | uncertain significance | not provided | 2014-06-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003611504 | SCV004520679 | uncertain significance | Autosomal recessive polycystic kidney disease | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3100 of the PKHD1 protein (p.Glu3100Gly). This variant is present in population databases (rs749998868, gnomAD 0.003%). This missense change has been observed in individual(s) with polycystic kidney disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 198016). 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 with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |