Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000670303 | SCV000795138 | likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B | 2017-10-27 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000733621 | SCV000861709 | pathogenic | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002531247 | SCV003493301 | pathogenic | Peroxisome biogenesis disorder, complementation group 7 | 2022-05-26 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the PEX10 gene (p.Gly274Alafs*90). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the PEX10 protein and extend the protein by 16 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 554630). This variant disrupts a region of the PEX10 protein in which other variant(s) (p.Arg331Gln) have been determined to be pathogenic (PMID: 20695019, 27230853). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |