Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001764994 | SCV001989545 | uncertain significance | not provided | 2019-06-06 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation as the last 244 amino acids are lost and replaced with 14 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein |
| Labcorp Genetics |
RCV002540232 | SCV003020170 | uncertain significance | Developmental and epileptic encephalopathy, 26 | 2022-04-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys615Profs*15) in the KCNB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 244 amino acid(s) of the KCNB1 protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1304758). This variant has not been reported in the literature in individuals affected with KCNB1-related conditions. This variant is not present in population databases (gnomAD no frequency). |