Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000624445 | SCV000741076 | pathogenic | Inborn genetic diseases | 2015-10-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001860423 | SCV002224183 | uncertain significance | Peroxisome biogenesis disorder | 2021-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with leucine at codon 888 of the PEX6 protein (p.Arg888Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 520796). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |