Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540393 | SCV000654307 | pathogenic | Developmental and epileptic encephalopathy 94 | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 29-37 of the CHD2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with clinical features of CHD2-related epilepsy (Invitae). In at least one individual the variant was observed to be de novo. This variant disrupts the p.Arg1313 amino acid residue in CHD2. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |