Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410278 | SCV000485400 | likely pathogenic | Glycogen storage disease, type II | 2016-09-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410278 | SCV000957867 | pathogenic | Glycogen storage disease, type II | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln743*) in the GAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 18285536). ClinVar contains an entry for this variant (Variation ID: 370157). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000410278 | SCV004197867 | pathogenic | Glycogen storage disease, type II | 2023-02-26 | criteria provided, single submitter | clinical testing |