Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231937 | SCV001404475 | uncertain significance | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2022-01-15 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 958721). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. This variant is present in population databases (rs768604587, gnomAD 0.006%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 169 of the PEX26 protein (p.Leu169Pro). 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. |
Dental Genetics Laboratory, |
RCV001726460 | SCV001548535 | uncertain significance | Heimler syndrome 1 | no assertion criteria provided | clinical testing |