Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001825096 | SCV002074301 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 1 | 2022-01-16 | criteria provided, single submitter | clinical testing | Variant summary: PEX7 c.376C>T (p.Gln126X) 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 251428 control chromosomes. c.376C>T has been reported in the literature in at-least one individual affected with Rhizomelic Chondrodysplasia Punctata Type 1 (example, Motley_2002). To our knowledge, no variant specific experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Invitae | RCV002034680 | SCV002135666 | pathogenic | Peroxisome biogenesis disorder 9B | 2022-01-24 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with rhizomelic chrondrodysplasis punctata (PMID: 11781871). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln126*) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). For these reasons, this variant has been classified as Pathogenic. |