Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000651632 | SCV000773486 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2023-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 230 of the CHD2 protein (p.Val230Ile). This variant is present in population databases (rs762370978, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 541363). 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. 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. |
| Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000651632 | SCV002072871 | uncertain significance | Developmental and epileptic encephalopathy 94 | criteria provided, single submitter | clinical testing | The missense variant p.V230I in CHD2 (NM_001271.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It has been submitted to ClinVar as Uncertain significance. The missense variant c.688G>A (p.V230I) in CHD2 (NM_001271.4) is observed in 3/34404 (0.0087%) alleles from individuals of Latino background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. For these reasons, this variant has been classified as Uncertain Significance |