Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671986 | SCV000797035 | likely pathogenic | Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) | 2018-01-09 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001378694 | SCV001576320 | pathogenic | Peroxisome biogenesis disorder 3A (Zellweger) | 2023-11-23 | criteria provided, single submitter | clinical testing | This variant, c.1047_1049del, results in the deletion of 1 amino acid(s) of the PEX12 protein (p.Gln349del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs267608184, gnomAD 0.01%). This variant has been observed in individuals with PEX12-related conditions (PMID: 15542397, 21031596, 33123925; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 556045). For these reasons, this variant has been classified as Pathogenic. |
| 3billion | RCV002250679 | SCV002521361 | likely pathogenic | Peroxisome biogenesis disorder type 3B | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000556045). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
| Baylor Genetics | RCV001378694 | SCV004201448 | pathogenic | Peroxisome biogenesis disorder 3A (Zellweger) | 2024-03-20 | criteria provided, single submitter | clinical testing |