Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003646551 | SCV004446055 | pathogenic | Peroxisome biogenesis disorder | 2023-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX16-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu273*) in the PEX16 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX16 are known to be pathogenic (PMID: 9837814, 11890679, 20647552, 20681997). |