Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248070 | SCV001421535 | uncertain significance | Peroxisome biogenesis disorder | 2022-01-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 664 of the PEX6 protein (p.Glu664Asp). This variant is present in population databases (rs267608230, gnomAD 0.02%). This missense change has been observed in individual(s) with Zellweger Syndrome Spectrum (PMID: 19877282, 26287655). ClinVar contains an entry for this variant (Variation ID: 972112). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002480855 | SCV002782887 | uncertain significance | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 | 2021-10-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003473835 | SCV004201540 | likely pathogenic | Heimler syndrome 2 | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001836248 | SCV002077289 | uncertain significance | Zellweger spectrum disorders | 2020-03-06 | no assertion criteria provided | clinical testing |