Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001345731 | SCV001539870 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2021-08-15 | 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. This sequence change affects codon 491 of the GYS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GYS1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GYS1-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. |