ClinVar Miner

Submissions for variant NM_021957.4(GYS2):c.941+1G>C (rs587776831)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000017428 SCV000763892 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 2017-08-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the GYS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with glycogen storage disease type 0 in a single family (PMID: 9691087). ClinVar contains an entry for this variant (Variation ID: 16050). 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 GYS2 are known to be pathogenic (PMID: 9691087). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017428 SCV000037700 pathogenic Glycogen storage disease due to hepatic glycogen synthase deficiency 1998-08-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.