Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001206685 | SCV001378005 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2019-06-07 | criteria provided, single submitter | clinical testing | 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 344 of the CNTNAP2 protein (p.Gly344Asp). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. |
| Ambry Genetics | RCV002379783 | SCV002696472 | uncertain significance | Inborn genetic diseases | 2018-10-11 | criteria provided, single submitter | clinical testing | The p.G344D variant (also known as c.1031G>A), located in coding exon 7 of the CNTNAP2 gene, results from a G to A substitution at nucleotide position 1031. The glycine at codon 344 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |