Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696480 | SCV000825043 | pathogenic | Glycogen storage disease type III | 2023-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 574527). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 27106217). This variant is present in population databases (rs756175624, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Asn84Lysfs*17) in the AGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). |
Baylor Genetics | RCV000696480 | SCV004211035 | pathogenic | Glycogen storage disease type III | 2023-09-09 | criteria provided, single submitter | clinical testing |