Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712667 | SCV000725453 | likely benign | not provided | 2020-07-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30868116) |
Invitae | RCV001071515 | SCV001236823 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2023-03-23 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with drug-resistant epilepsy (PMID: 30868116). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 540 of the CHD2 protein (p.Val540Ile). ClinVar contains an entry for this variant (Variation ID: 513906). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CHD2 protein function. |