Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671389 | SCV000796361 | likely pathogenic | Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) | 2017-12-12 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781711 | SCV000919974 | pathogenic | Peroxisome biogenesis disorder | 2018-08-13 | criteria provided, single submitter | clinical testing | Variant summary: PEX12 c.625C>T (p.Gln209X) 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 (e.g., p.Leu245fsX19). The variant allele was found at a frequency of 2.8e-05 in 246262 control chromosomes. c.625C>T has been reported in the literature in individuals affected with Zellweger Syndrome. These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence showing a reduction in PEX12 mRNA in patient fibroblasts, as well as <10% of normal activity in dihydroxyacetonephosphate acyltransferase (DHAPAT) activity (Gootjes_2004). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV000819199 | SCV000959846 | pathogenic | Peroxisome biogenesis disorder 3A (Zellweger) | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln209*) in the PEX12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX12 are known to be pathogenic (PMID: 9090384, 9632816, 21031596). This variant is present in population databases (rs61752106, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Zellweger syndrome (PMID: 14571262). ClinVar contains an entry for this variant (Variation ID: 555548). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000671389 | SCV002815747 | pathogenic | Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) | 2021-09-21 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000819199 | SCV004201430 | pathogenic | Peroxisome biogenesis disorder 3A (Zellweger) | 2024-03-26 | criteria provided, single submitter | clinical testing |