Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000679945 | SCV000807379 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in an 8-year-old female with intellectual disability, regression, hypotonia, epilepsy, mild ataxia, autism, celiac disease. |
| Invitae | RCV000679945 | SCV001392586 | pathogenic | Developmental and epileptic encephalopathy 94 | 2022-07-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHD2 protein function. ClinVar contains an entry for this variant (Variation ID: 560972). This missense change has been observed in individual(s) with clinical features of CHD2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 646 of the CHD2 protein (p.Gly646Glu). |