Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054147 | SCV001218448 | pathogenic | Glycogen storage disease XV; Polyglucosan body myopathy type 2 | 2019-12-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GYG1 are known to be pathogenic (PMID: 20357282, 25272951). This variant has been observed in an individual affected with GYG1-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr273*) in the GYG1 gene. It is expected to result in an absent or disrupted protein product. |