Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001051393 | SCV001215545 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2023-10-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1116 of the CHD2 protein (p.Arg1116Cys). This variant is present in population databases (rs200013427, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of CHD2-related conditions (PMID: 33004838). ClinVar contains an entry for this variant (Variation ID: 847777). 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 not expected to disrupt CHD2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Gene |
RCV001570114 | SCV001794334 | likely benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28191889) |