Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525406 | SCV000654323 | pathogenic | Developmental and epileptic encephalopathy 94 | 2020-03-07 | 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. ClinVar contains an entry for this variant (Variation ID: 474379). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu923Glyfs*42) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. |