Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001974153 | SCV002261177 | uncertain significance | Peroxisome biogenesis disorder | 2022-12-29 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 735 of the PEX6 protein (p.Leu735Pro). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1478375). |