Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037604 | SCV001201028 | pathogenic | Glycogen storage disease, type II | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu460Argfs*46) 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 variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 836467). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001784574 | SCV002023853 | pathogenic | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001037604 | SCV004197900 | likely pathogenic | Glycogen storage disease, type II | 2022-08-10 | criteria provided, single submitter | clinical testing |