ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.143+1G>A

dbSNP: rs397515343
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851595 SCV002244399 pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2023-11-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the GBE1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GBE1 are known to be pathogenic (PMID: 15452297, 20058079). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with glycogen storage disease IV (PMID: 15452297). This variant is also known as IVS1+1G>A. ClinVar contains an entry for this variant (Variation ID: 2784). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000056092 SCV004198663 pathogenic Glycogen storage disease, type IV 2023-10-17 criteria provided, single submitter clinical testing
OMIM RCV000002918 SCV000023076 pathogenic Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 2004-09-28 no assertion criteria provided literature only
GeneReviews RCV000056092 SCV000087161 pathologic Glycogen storage disease, type IV 2009-04-02 no assertion criteria provided curation Converted during submission to Pathogenic.

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.