Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001317942 | SCV001508623 | uncertain significance | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2020-06-24 | criteria provided, single submitter | clinical testing | This sequence change affects codon 448 of the RELN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RELN protein. This variant is present in population databases (rs144150588, ExAC 0.002%). This variant has not been reported in the literature in individuals with RELN-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |