Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243974 | SCV001417166 | pathogenic | Glycogen storage disease type III | 2019-11-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). Experimental studies have shown that disruption of this splice site disrupts mRNA splicing (PMID: 26984562). Disruption of this splice site has been observed in individual(s) with glycogen storage disease (PMID: 26984562). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 32 of the AGL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Please be sure to change the variant details text from "This variant has been" to "Disruption of this splice site has been" for that E3 text. |