Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001047573 | SCV001211538 | likely pathogenic | Zellweger spectrum disorders | 2019-12-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with PEX1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 13 (c.2072-42_2085del) of the PEX1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
| Baylor Genetics | RCV004570161 | SCV005055226 | likely pathogenic | Heimler syndrome 1 | 2023-12-02 | criteria provided, single submitter | clinical testing |