Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001070209 | SCV001235426 | pathogenic | Developmental and epileptic encephalopathy 94 | 2020-08-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1261*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with childhood epilepsy (PMID: 29720203). Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001664660 | SCV001872657 | pathogenic | not provided | 2022-07-26 | criteria provided, single submitter | clinical testing | Reported previously in an individual with early onset epilepsy (Stanek et al., 2018); Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29720203, 31452935, 35774528) |