Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003530933 | SCV004293636 | pathogenic | Peroxisome biogenesis disorder | 2023-01-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 10408779). This variant is present in population databases (rs61753213, gnomAD 0.07%). This sequence change creates a premature translational stop signal (p.Pro177Hisfs*29) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 8670792, 19877282, 21031596). |
Baylor Genetics | RCV004574097 | SCV005055278 | pathogenic | Heimler syndrome 2 | 2024-01-12 | criteria provided, single submitter | clinical testing |