Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003476760 | SCV004203360 | pathogenic | Heimler syndrome 1 | 2023-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003594693 | SCV004294511 | pathogenic | Zellweger spectrum disorders | 2023-04-17 | 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: 21031596). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val19Glyfs*48) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596, 26387595, 31831025). |