Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636258 | SCV000757697 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2021-01-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157). This variant has not been reported in the literature in individuals with KCNQ2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala147Profs*24) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV001662678 | SCV001874127 | pathogenic | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |