Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001007593 | SCV001167272 | likely pathogenic | Developmental and epileptic encephalopathy 94 | 2019-08-31 | criteria provided, single submitter | clinical testing | This CHD2 variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the histidine residue at this position is evolutionarily conserved across all species assessed. This apparently de novo variant is considered likely pathogenic. |