Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539632 | SCV000626755 | pathogenic | Glycogen storage disease type III | 2023-02-22 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with glycogen storage disease (PMID: 26984562; Invitae). ClinVar contains an entry for this variant (Variation ID: 456505). Studies have shown that disruption of this splice site results in skipping of exon 33 and introduces a new termination codon (PMID: 26984562). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 32 of the AGL gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein. This variant is not present in population databases (gnomAD no frequency). |
Counsyl | RCV000539632 | SCV000797123 | likely pathogenic | Glycogen storage disease type III | 2019-07-12 | no assertion criteria provided | clinical testing |