Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001071460 | SCV001236766 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 748 of the CNTNAP2 protein (p.Asp748Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. 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 C65"). 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 | RCV002418564 | SCV002724989 | uncertain significance | Inborn genetic diseases | 2019-07-18 | criteria provided, single submitter | clinical testing | The p.D748G variant (also known as c.2243A>G), located in coding exon 14 of the CNTNAP2 gene, results from an A to G substitution at nucleotide position 2243. The aspartic acid at codon 748 is replaced by glycine, an amino acid with 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. |