Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000598973 | SCV000710443 | likely pathogenic | not provided | 2018-01-16 | criteria provided, single submitter | clinical testing | The c.310dupA variant in the PEX2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.310dupA variant causes a frameshift starting with codon Isoleucine 104, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Ile104AsnfsX19. This variant is predicted to cause loss of normal protein function through protein truncation. The c.310dupA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.310dupA as a likely pathogenic variant. |
| Eurofins Ntd Llc |
RCV000598973 | SCV000858938 | pathogenic | not provided | 2018-01-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001388280 | SCV001589211 | pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile104Asnfs*19) in the PEX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 202 amino acid(s) of the PEX2 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with PEX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 504136). This variant disrupts a region of the PEX2 protein in which other variant(s) (p.Arg184Valfs*8) have been determined to be pathogenic (PMID: 10652207, 14630978, 17041890). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV001388280 | SCV004201476 | likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger) | 2023-07-22 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001275874 | SCV001461521 | likely pathogenic | Zellweger spectrum disorders | 2020-09-16 | no assertion criteria provided | clinical testing |