Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002636963 | SCV003507810 | uncertain significance | Epilepsy, familial adult myoclonic, 5 | 2022-04-29 | 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. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 278 of the CNTN2 protein (p.Gly278Ser). This variant is present in population databases (rs749805717, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. 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. |
Ambry Genetics | RCV004614379 | SCV005106480 | uncertain significance | not specified | 2024-04-29 | criteria provided, single submitter | clinical testing | The c.832G>A (p.G278S) alteration is located in exon 8 (coding exon 7) of the CNTN2 gene. This alteration results from a G to A substitution at nucleotide position 832, causing the glycine (G) at amino acid position 278 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |