Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206520 | SCV001377831 | pathogenic | Glycogen storage disease due to hepatic glycogen synthase deficiency | 2019-09-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe155Leufs*4) in the GYS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs763929651, ExAC 0.002%). This variant has not been reported in the literature in individuals with GYS2-related conditions. Loss-of-function variants in GYS2 are known to be pathogenic (PMID: 9691087). For these reasons, this variant has been classified as Pathogenic. |