Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519883 | SCV000617411 | likely pathogenic | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | Reported previously in an individual with peroxisome biogenesis disorders in the Zellweger syndrome spectrum who was heterozygous for the P118R variant and another variant (PMID: 15542397); Published functional studies suggest a damaging effect (PMID: 34804114); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30446579, 19105186, 35805150, 34804114, 15542397, 32140910) |
Invitae | RCV001071380 | SCV001236682 | uncertain significance | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2022-07-19 | 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 118 of the PEX26 protein (p.Pro118Arg). This variant is present in population databases (rs61752135, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of PEX26-related conditions (PMID: 15542397, 32140910). ClinVar contains an entry for this variant (Variation ID: 449363). 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. |
Baylor Genetics | RCV003476217 | SCV004201504 | likely pathogenic | Peroxisome biogenesis disorder 7A (Zellweger) | 2023-06-28 | criteria provided, single submitter | clinical testing |