Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001050413 | SCV001214518 | uncertain significance | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs750764421, gnomAD 0.005%). 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. ClinVar contains an entry for this variant (Variation ID: 846972). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2535 of the RELN protein (p.Asn2535Lys). |
Ambry Genetics | RCV002553222 | SCV003537272 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.7605C>A (p.N2535K) alteration is located in exon 48 (coding exon 48) of the RELN gene. This alteration results from a C to A substitution at nucleotide position 7605, causing the asparagine (N) at amino acid position 2535 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |