Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000693800 | SCV000821683 | uncertain significance | Epilepsy, familial adult myoclonic, 5 | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 914 of the CNTN2 protein (p.Arg914Gln). This variant is present in population databases (rs373583840, 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: 572426). 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. 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. |
| Fulgent Genetics, |
RCV000693800 | SCV002812768 | uncertain significance | Epilepsy, familial adult myoclonic, 5 | 2021-09-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002532243 | SCV003696573 | uncertain significance | Inborn genetic diseases | 2021-08-12 | criteria provided, single submitter | clinical testing | The c.2741G>A (p.R914Q) alteration is located in exon 21 (coding exon 20) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 2741, causing the arginine (R) at amino acid position 914 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |