Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169363 | SCV000220734 | likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger) | 2014-09-25 | criteria provided, single submitter | literature only | |
| Baylor Genetics | RCV001004516 | SCV001163561 | pathogenic | Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B | criteria provided, single submitter | clinical testing | ||
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175576 | SCV001339209 | pathogenic | Peroxisome biogenesis disorder | 2020-03-23 | criteria provided, single submitter | clinical testing | Variant summary: PEX1 c.1716_1717delCA (p.His572GlnfsX19) 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 was absent in 251424 control chromosomes (gnomAD). c.1716_1717delCA has been reported in the literature in individuals affected with Zellweger Syndrome (examples- Yik_2009, Ebberink_2010). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation prior to or in 2014) cited the variant as pathogenic/likley pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Invitae | RCV001243745 | SCV001416926 | pathogenic | Zellweger spectrum disorders | 2023-08-28 | 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: 188984). This premature translational stop signal has been observed in individuals with peroxisomal biogenesis disorders (PMID: 19105186). This variant is present in population databases (rs786204606, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.His572Glnfs*19) 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). |
| Baylor Genetics | RCV003474910 | SCV004203287 | pathogenic | Heimler syndrome 1 | 2023-09-15 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001243745 | SCV002076894 | pathogenic | Zellweger spectrum disorders | 2017-08-30 | no assertion criteria provided | clinical testing |