Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674254 | SCV000799559 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2018-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001201378 | SCV000931456 | pathogenic | Zellweger spectrum disorders | 2023-10-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2*) 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 (rs762679408, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with a PEX1-related condition (PMID: 21031596). ClinVar contains an entry for this variant (Variation ID: 558040). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003472166 | SCV004203348 | pathogenic | Heimler syndrome 1 | 2023-05-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001201378 | SCV002079358 | pathogenic | Zellweger spectrum disorders | 2017-11-30 | no assertion criteria provided | clinical testing |