Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001953848 | SCV002238943 | pathogenic | not provided | 2021-08-11 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with hepatoerythropoietic porphyria and/or porphyria cutanea tarda (PMID: 11295834, 18462440). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. 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"). For these reasons, this variant has been classified as Pathogenic. This sequence change replaces proline with serine at codon 235 of the UROD protein (p.Pro235Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). |
| Mendelics | RCV002246623 | SCV002516145 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing |