Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001049573 | SCV001213630 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2019-03-21 | 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: "Deleterious"; PolyPhen-2: "Benign"; 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 valine with methionine at codon 945 of the CNTNAP2 protein (p.Val945Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. |
| Ambry Genetics | RCV002553205 | SCV003673716 | uncertain significance | Inborn genetic diseases | 2022-12-01 | criteria provided, single submitter | clinical testing | The c.2833G>A (p.V945M) alteration is located in exon 18 (coding exon 18) of the CNTNAP2 gene. This alteration results from a G to A substitution at nucleotide position 2833, causing the valine (V) at amino acid position 945 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |