Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667540 | SCV000792009 | uncertain significance | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B | 2017-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855482 | SCV002223232 | uncertain significance | Peroxisome biogenesis disorder | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 742 of the PEX6 protein (p.Leu742Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs267608235, ExAC 0.04%). This missense change has been observed in individual(s) with clinical features of Zellweger spectrum disorder (PMID: 19877282). ClinVar contains an entry for this variant (Variation ID: 552309). 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. |
Center for Personalized Medicine, |
RCV003156107 | SCV003845339 | uncertain significance | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing |