Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054455 | SCV001218769 | pathogenic | Developmental and epileptic encephalopathy 94 | 2022-02-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1058Argfs*20) in the CHD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHD2 are known to be pathogenic (PMID: 23708187, 24207121). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 850311). This variant has not been reported in the literature in individuals affected with CHD2-related conditions. This variant is not present in population databases (gnomAD no frequency). |