Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169203 | SCV000220453 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2014-06-25 | criteria provided, single submitter | literature only | |
| Invitae | RCV001376602 | SCV001232225 | pathogenic | Zellweger spectrum disorders | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg798Serfs*35) 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 (rs61750414, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 16088892). ClinVar contains an entry for this variant (Variation ID: 188851). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001201267 | SCV001372377 | pathogenic | Peroxisome biogenesis disorder | 2020-06-16 | criteria provided, single submitter | clinical testing | Variant summary: PEX1 c.2391_2392delTC (p.Arg798SerfsX35) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251226 control chromosomes. c.2391_2392delTC has been reported in the literature in at-least one individual affected with Zellweger Syndrome and has been subsequently cited by others (example, Maxwell_2005, Crane_2005, Ebberink_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003474899 | SCV004203285 | pathogenic | Heimler syndrome 1 | 2023-09-19 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001376602 | SCV002076866 | pathogenic | Zellweger spectrum disorders | 2017-08-30 | no assertion criteria provided | clinical testing |