Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000675040 | SCV000800470 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000675040 | SCV002284473 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2023-02-24 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3762 of the PKHD1 protein (p.Pro3762Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with polycystic kidney disease (PMID: 16133180, 26673778). ClinVar contains an entry for this variant (Variation ID: 558729). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Baylor Genetics | RCV003465541 | SCV004204712 | likely pathogenic | Polycystic kidney disease 4 | 2023-03-16 | criteria provided, single submitter | clinical testing |