Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031577 | SCV001194883 | pathogenic | Peroxisome biogenesis disorder | 2019-09-30 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the PEX6 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PEX6-related conditions. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). For these reasons, this variant has been classified as Pathogenic. |