Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000411495 | SCV000487737 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2016-10-07 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000409071 | SCV000487738 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2016-10-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001210281 | SCV001381760 | pathogenic | Zellweger spectrum disorders | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile370Leufs*17) 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: 21031596, 26387595, 31831025). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 371779). For these reasons, this variant has been classified as Pathogenic. |
| ARUP Laboratories, |
RCV001810874 | SCV001474064 | likely pathogenic | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | |
| Intergen, |
RCV000411495 | SCV004031429 | pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2023-09-05 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003475990 | SCV004203347 | likely pathogenic | Heimler syndrome 1 | 2024-03-18 | criteria provided, single submitter | clinical testing |