Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303379 | SCV001492621 | uncertain significance | Peroxisome biogenesis disorder 5A (Zellweger) | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with serine at codon 154 of the PEX2 protein (p.Phe154Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is present in population databases (rs755169713, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. 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. 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. |
Natera, |
RCV001830196 | SCV002083368 | uncertain significance | Zellweger spectrum disorders | 2020-09-27 | no assertion criteria provided | clinical testing |