Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002318166 | SCV000851386 | uncertain significance | Inborn genetic diseases | 2016-12-13 | criteria provided, single submitter | clinical testing | The p.V1203L variant (also known as c.3607G>C), located in coding exon 22 of the CNTNAP2 gene, results from a G to C substitution at nucleotide position 3607. The valine at codon 1203 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001862079 | SCV002302171 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | 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 tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 589981). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1203 of the CNTNAP2 protein (p.Val1203Leu). |