Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666456 | SCV000790752 | likely pathogenic | Glycogen storage disease type III | 2017-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666456 | SCV001587458 | pathogenic | Glycogen storage disease type III | 2023-09-26 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of glycogen storage disease type III (PMID: 26885414). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change creates a premature translational stop signal (p.Gln1079*) 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). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 551403). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000666456 | SCV002055495 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing |