Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000734495 | SCV000862645 | pathogenic | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001243165 | SCV001416303 | pathogenic | Peroxisome biogenesis disorder | 2023-08-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile800Serfs*16) in the PEX6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX6 are known to be pathogenic (PMID: 10408779, 21031596, 31831025). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Zellweger spectrum disorder (PMID: 8670792, 19877282). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001243165 | SCV001623264 | pathogenic | Peroxisome biogenesis disorder | 2021-05-05 | criteria provided, single submitter | clinical testing | Variant summary: PEX6 c.2398_2417delinsT (p.Ile800SerfsX16) 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. The variant was absent in 251688 control chromosomes (gnomAD and publication data). c.2398_2417delinsT has been reported in the literature in individuals affected with Peroxisome Biogenesis Disorder or Zellweger Syndrome (Yahraus_1996, Steinberg_2004, 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 after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV003472271 | SCV004201539 | pathogenic | Heimler syndrome 2 | 2023-09-20 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV002279940 | SCV000028797 | pathogenic | Peroxisome biogenesis disorder 4A (Zellweger) | 1996-06-17 | no assertion criteria provided | literature only |