Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001368001 | SCV001564376 | uncertain significance | Glycogen storage disease, type II | 2022-07-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 1058822). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This sequence change falls in intron 9 of the GAA gene. It does not directly change the encoded amino acid sequence of the GAA protein. |