Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001173934 | SCV001337053 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001342924 | SCV001536876 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2020-02-24 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the PRX gene (p.Ala1447Serfs*40). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the PRX protein and extend the protein by an additional 24 amino acids. This variant is present in population databases (rs778270475, ExAC 0.003%). This variant has not been reported in the literature in individuals with PRX-related conditions. 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 |
RCV001760121 | SCV001999352 | uncertain significance | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |