Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000793915 | SCV000933294 | uncertain significance | Parkinsonian-pyramidal syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg513Glnfs*11) in the FBXO7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acid(s) of the FBXO7 protein. This variant is present in population databases (rs772175765, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FBXO7-related conditions. ClinVar contains an entry for this variant (Variation ID: 640811). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 |
RCV002466584 | SCV002762383 | uncertain significance | not provided | 2022-06-10 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation as the last 10 amino acids are replaced with 10 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge |
| Fulgent Genetics, |
RCV000793915 | SCV002786463 | uncertain significance | Parkinsonian-pyramidal syndrome | 2022-02-15 | criteria provided, single submitter | clinical testing |