Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001342195 | SCV001536109 | uncertain significance | Peroxisome biogenesis disorder, complementation group 7 | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 228 of the PEX10 protein (p.Gly228Arg). This variant is present in population databases (rs138489241, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1038833). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Ambry Genetics | RCV002546951 | SCV003693994 | uncertain significance | Inborn genetic diseases | 2022-03-03 | criteria provided, single submitter | clinical testing | The c.682G>A (p.G228R) alteration is located in exon 4 (coding exon 4) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 682, causing the glycine (G) at amino acid position 228 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV001825878 | SCV002094120 | uncertain significance | Zellweger spectrum disorders | 2020-01-24 | no assertion criteria provided | clinical testing | |
| Prevention |
RCV004751961 | SCV005364139 | uncertain significance | PEX10-related disorder | 2024-03-21 | no assertion criteria provided | clinical testing | The PEX10 c.682G>A variant is predicted to result in the amino acid substitution p.Gly228Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of European (Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |