Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000794023 | SCV000933405 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2022-06-29 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 347 of the CNTNAP2 protein (p.Ile347Val). This variant is present in population databases (rs768298723, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 640894). 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: "Benign"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV002388426 | SCV002698071 | uncertain significance | Inborn genetic diseases | 2018-06-12 | criteria provided, single submitter | clinical testing | The p.I347V variant (also known as c.1039A>G), located in coding exon 7 of the CNTNAP2 gene, results from an A to G substitution at nucleotide position 1039. The isoleucine at codon 347 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |