Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640583 | SCV000762177 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2018-11-09 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with leucine at codon 290 of the AP3B1 protein (p.Pro290Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs759296897, ExAC 0.03%). This variant has not been reported in the literature in individuals with AP3B1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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, |
RCV000640583 | SCV000895719 | uncertain significance | Hermansky-Pudlak syndrome 2 | 2018-10-31 | criteria provided, single submitter | clinical testing |