Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000712916 | SCV000843470 | uncertain significance | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000820073 | SCV000960767 | uncertain significance | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-04-15 | criteria provided, single submitter | clinical testing | 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 RELN 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. ClinVar contains an entry for this variant (Variation ID: 586403). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2129 of the RELN protein (p.Gly2129Ser). |