Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000805245 | SCV000945193 | uncertain significance | Epilepsy, familial adult myoclonic, 5 | 2024-06-24 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 702 of the CNTN2 protein (p.Lys702Glu). This variant is present in population databases (rs149762176, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 650147). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CNTN2 protein function with a negative predictive value of 95%. 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 | RCV004028212 | SCV003709606 | uncertain significance | not specified | 2024-11-26 | criteria provided, single submitter | clinical testing | The c.2104A>G (p.K702E) alteration is located in exon 16 (coding exon 15) of the CNTN2 gene. This alteration results from a A to G substitution at nucleotide position 2104, causing the lysine (K) at amino acid position 702 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |