Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061426 | SCV001226169 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2020-10-01 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 856043). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 230 of the CNTNAP2 protein (p.Gly230Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. 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. |