Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042670 | SCV001206367 | uncertain significance | Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | 2020-02-21 | 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. 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. This variant has not been reported in the literature in individuals with SRPX2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 381 of the SRPX2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SRPX2 protein. |