Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001202260 | SCV001373368 | uncertain significance | Peroxisome biogenesis disorder | 2021-09-01 | criteria provided, single submitter | clinical testing | This variant, c.283_288del, results in the deletion of 2 amino acid(s) of the PEX6 protein (p.Arg95_Ala96del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PEX6-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Natera, |
RCV001828624 | SCV002077353 | uncertain significance | Zellweger spectrum disorders | 2020-02-02 | no assertion criteria provided | clinical testing |