Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000316448 | SCV000335786 | uncertain significance | not provided | 2015-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001063738 | SCV001228598 | uncertain significance | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 2022-10-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr299Leufs*7) in the PEX26 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 7 amino acid(s) of the PEX26 protein. This variant is present in population databases (rs759821636, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PEX26-related conditions. ClinVar contains an entry for this variant (Variation ID: 283588). 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. |
Mayo Clinic Laboratories, |
RCV000316448 | SCV001713081 | uncertain significance | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003417890 | SCV004116621 | uncertain significance | PEX26-related condition | 2023-07-31 | criteria provided, single submitter | clinical testing | The PEX26 c.895dupT variant is predicted to result in a frameshift and premature protein termination (p.Tyr299Leufs*7). This variant is in the last exon and is predicted to disrupt the last seven amino acids, and is not predicted to undergo nonsense mediated decay. To our knowledge, this variant has not been reported in the literature and no other premature protein truncating variants have been reported downstream of this variant. This variant is reported in 0.14% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-18570817-C-CT). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |