Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001277315 | SCV001214795 | uncertain significance | Zellweger spectrum disorders | 2022-07-19 | criteria provided, single submitter | clinical testing | This variant, c.706_720del, results in the deletion of 5 amino acid(s) of the PEX1 protein (p.Pro236_Ser240del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754890130, gnomAD 0.006%). 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: 847180). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001772254 | SCV002002455 | uncertain significance | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame deletion of 5 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Mayo Clinic Laboratories, |
RCV001772254 | SCV004224046 | uncertain significance | not provided | 2022-11-23 | criteria provided, single submitter | clinical testing | PM2, PM4 |
Natera, |
RCV001277315 | SCV001464257 | uncertain significance | Zellweger spectrum disorders | 2019-06-13 | no assertion criteria provided | clinical testing |