Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412445 | SCV000487440 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2015-12-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410009 | SCV000487441 | likely pathogenic | Peroxisome biogenesis disorder 1B | 2015-12-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002523884 | SCV003227036 | pathogenic | Zellweger spectrum disorders | 2022-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371690). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. This variant is present in population databases (rs754983126, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu510*) 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). |
Baylor Genetics | RCV003475975 | SCV004203393 | likely pathogenic | Heimler syndrome 1 | 2022-04-07 | criteria provided, single submitter | clinical testing |