Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001008742 | SCV001168523 | likely pathogenic | not provided | 2019-01-25 | criteria provided, single submitter | clinical testing | The c.3329_3332delCTTT variant in the PEX1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3329_3332delCTTT variant causes a frameshift, changing codon Serine 1110 to a premature Stop codon, denoted p.Ser1110Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3329_3332delCTTT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3329_3332delCTTT as a likely pathogenic variant. |
| Labcorp Genetics |
RCV001832328 | SCV002125975 | pathogenic | Zellweger spectrum disorders | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1110*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 817583). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003473556 | SCV004203311 | likely pathogenic | Heimler syndrome 1 | 2023-07-20 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001832328 | SCV002076814 | likely pathogenic | Zellweger spectrum disorders | 2021-03-03 | no assertion criteria provided | clinical testing |