Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664741 | SCV000788749 | pathogenic | Glycogen storage disease type III | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664741 | SCV001419940 | pathogenic | Glycogen storage disease type III | 2021-06-23 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the AGL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Disruption of this splice site has been observed in individual(s) with glycogen storage disease III (PMID: 19834502, 25451950, 26984562). ClinVar contains an entry for this variant (Variation ID: 550103). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000664741 | SCV002055475 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing |