Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001343401 | SCV001537379 | uncertain significance | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the GYS1 mRNA. The next in-frame methionine is located at codon 9. This variant is present in population databases (rs758161697, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with GYS1-related conditions. 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. |