Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204589 | SCV001375802 | pathogenic | Glycogen storage disease, type II | 2019-08-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). This variant has been observed in an individual affected with Pompe disease (PMID: 19588081). It is also known as p.Glu212X in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu215*) in the GAA gene. It is expected to result in an absent or disrupted protein product. |