Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036200 | SCV001199551 | pathogenic | Developmental and epileptic encephalopathy 94 | 2019-03-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). This variant has not been reported in the literature in individuals with CHD2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1309*) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. |
Institute of Human Genetics, |
RCV001036200 | SCV003921056 | pathogenic | Developmental and epileptic encephalopathy 94 | 2023-02-21 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_MOD, PS4_SUP, PM2_SUP |