Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673874 | SCV000799126 | pathogenic | Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B | 2018-04-11 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193475 | SCV001362343 | pathogenic | Peroxisome biogenesis disorder | 2021-06-11 | criteria provided, single submitter | clinical testing | Variant summary: PEX6 c.517delA (p.Ser173AlafsX33) 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 1e-05 in 197224 control chromosomes (gnomAD). c.517delA has been reported in the literature in at least two unrelated, compound heterozygous individuals affected with Zellweger Syndrome (Steinberg 2004, Ebberink 2010). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV001193475 | SCV002236006 | pathogenic | Peroxisome biogenesis disorder | 2023-02-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser173Alafs*33) 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: 8670792, 19877282, 21031596). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557701). This premature translational stop signal has been observed in individual(s) with clinical features of PEX6-related conditions (PMID: 15542397). This variant is present in population databases (rs61753212, gnomAD 0.007%). |
| Baylor Genetics | RCV004568560 | SCV005055279 | pathogenic | Heimler syndrome 2 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001830460 | SCV002077341 | pathogenic | Zellweger spectrum disorders | 2020-06-19 | no assertion criteria provided | clinical testing |