Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001221405 | SCV001393449 | uncertain significance | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-05-11 | 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 RELN protein function. ClinVar contains an entry for this variant (Variation ID: 949839). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1344 of the RELN protein (p.Gly1344Asp). |
| Illumina Laboratory Services, |
RCV001270772 | SCV001451524 | uncertain significance | Norman-Roberts syndrome | 2019-02-21 | criteria provided, single submitter | clinical testing | The RELN c.4031G>A (p.Gly1344Asp) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Gly1344Asp variant is classified as a variant of uncertain significance for lissencephaly 2. |