Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222422 | SCV001394520 | pathogenic | Peroxisome biogenesis disorder, complementation group 7 | 2019-06-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the PEX10 protein. Other variant(s) that result in a similarly extended protein product (p.Leu256Alafs*103) have been determined to be pathogenic (PMID: 10862081, 19105186, 20695019, 21031596, 17702006). This suggests that these extensions are likely to be causative of disease. This variant has not been reported in the literature in individuals with PEX10-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the PEX10 gene (p.Val242Glyfs*117). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 105 amino acids of the PEX10 protein and extend the protein by an additional 11 amino acids. |