Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003011548 | SCV003304725 | pathogenic | Peroxisome biogenesis disorder 12A (Zellweger) | 2023-05-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2088255). This variant has not been reported in the literature in individuals affected with PEX19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln176*) in the PEX19 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX19 are known to be pathogenic (PMID: 10051604, 20683989, 21031596). |