Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246598 | SCV001419963 | uncertain significance | Peroxisome biogenesis disorder | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with phenylalanine at codon 703 of the PEX6 protein (p.Ser703Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PEX6-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 tolerated. 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, |
RCV001829995 | SCV002077286 | uncertain significance | Zellweger spectrum disorders | 2020-07-12 | no assertion criteria provided | clinical testing |