Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003056866 | SCV003447068 | uncertain significance | Epilepsy, familial adult myoclonic, 5 | 2022-02-15 | 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. 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. This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 283 of the CNTN2 protein (p.Gln283His). |
| Ambry Genetics | RCV004070244 | SCV003588390 | uncertain significance | not specified | 2021-12-02 | criteria provided, single submitter | clinical testing | The c.849G>C (p.Q283H) alteration is located in exon 8 (coding exon 7) of the CNTN2 gene. This alteration results from a G to C substitution at nucleotide position 849, causing the glutamine (Q) at amino acid position 283 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |