Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409040 | SCV000487509 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410568 | SCV000487510 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861400 | SCV002152758 | pathogenic | Zellweger spectrum disorders | 2021-11-26 | 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: 371706). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr954Tyrfs*9) 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). |
Fulgent Genetics, |
RCV002502433 | SCV002801288 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B | 2021-10-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475980 | SCV004203326 | likely pathogenic | Heimler syndrome 1 | 2023-06-24 | criteria provided, single submitter | clinical testing |