Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032053 | SCV001195360 | pathogenic | Glycogen storage disease, type II | 2019-12-26 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 8-15 of the GAA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in individual(s) with glycogen storage disease (PMID: 11854868, 29122469). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS7-IVS15del in the literature. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). For these reasons, this variant has been classified as Pathogenic. |