Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001317828 | SCV001508505 | uncertain significance | Andersen Tawil syndrome; Short QT syndrome type 3 | 2024-06-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp405Thrfs*2) in the KCNJ2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the KCNJ2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018519). 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 |
RCV005051891 | SCV005685908 | uncertain significance | not provided | 2024-07-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation as the last 23 amino acids are replaced with 1 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein |