Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004519 | SCV001163564 | pathogenic | Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001382274 | SCV001580955 | pathogenic | Zellweger spectrum disorders | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu376Lysfs*11) 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). This variant is present in population databases (rs751829426, gnomAD 0.009%). 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: 813450). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003473550 | SCV004203300 | likely pathogenic | Heimler syndrome 1 | 2023-08-18 | criteria provided, single submitter | clinical testing |