Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001305202 | SCV001494525 | uncertain significance | Glycogen storage disease, type II | 2021-08-20 | criteria provided, single submitter | clinical testing | This sequence change affects codon 418 of the GAA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GAA protein. This variant is present in population databases (rs769131433, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with GAA-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. 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. |