Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693961 | SCV000822385 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2021-03-10 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 572552). This variant is present in population databases (rs768407397, ExAC 0.002%). This sequence change replaces proline with serine at codon 665 of the CHD2 protein (p.Pro665Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. |
Revvity Omics, |
RCV000693961 | SCV003833278 | uncertain significance | Developmental and epileptic encephalopathy 94 | 2021-06-24 | criteria provided, single submitter | clinical testing |