Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731134 | SCV000858912 | uncertain significance | not provided | 2017-12-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001247070 | SCV001420469 | uncertain significance | Peroxisome biogenesis disorder | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 247 of the PEX6 protein (p.Pro247Arg). This variant is present in population databases (rs199697021, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 595555). 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, |
RCV001830613 | SCV002077335 | uncertain significance | Zellweger spectrum disorders | 2020-01-14 | no assertion criteria provided | clinical testing |