Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000281079 | SCV000345506 | uncertain significance | not provided | 2016-09-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820840 | SCV002065666 | uncertain significance | not specified | 2018-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850476 | SCV002179239 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with arginine at codon 145 of the PKHD1 protein (p.Pro145Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs146649894, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 290856). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002487288 | SCV002784872 | uncertain significance | Polycystic kidney disease 4 | 2022-04-23 | criteria provided, single submitter | clinical testing |