Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706150 | SCV000835185 | uncertain significance | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2022-10-19 | criteria provided, single submitter | clinical testing | 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 0.1%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2633 of the RELN protein (p.Glu2633Lys). ClinVar contains an entry for this variant (Variation ID: 582153). 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 RELN protein function. |
Athena Diagnostics Inc | RCV000712921 | SCV000843476 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing |