Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179475 | SCV000231730 | uncertain significance | not provided | 2015-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000799552 | SCV000939220 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 198204). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs794727802, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 283 of the CNTNAP2 protein (p.Arg283Cys). |