Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001373285 | SCV001569993 | uncertain significance | Combined oxidative phosphorylation defect type 27 | 2020-07-02 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the CARS2 gene (p.Val497Glyfs*101). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acids of the CARS2 protein and extend the protein by an additional 32 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CARS2-related conditions. 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 |
RCV003332335 | SCV004040283 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein elongation as the last 68 amino acids are replaced with 100 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 |