ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) (rs80338672)

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
Ambry Genetics RCV000210646 SCV000262898 pathogenic Inborn genetic diseases 2013-08-30 criteria provided, single submitter clinical testing
Invitae RCV001246690 SCV001420065 likely pathogenic Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 515 of the GBE1 protein (p.Arg515Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs80338672, ExAC 0.02%). This variant has been observed in individuals affected with glycogen storage disease, also known as polyglucosan body myopathy (PMID: 8613547, 11949934). ClinVar contains an entry for this variant (Variation ID: 2779). This variant has been reported to affect GBE1 protein function (PMID: 8613547). This variant disrupts the p.Arg515 amino acid residue in GBE1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10762170, 24248152). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002910 SCV000023068 pathogenic Glycogen storage disease IV, classic hepatic 1996-02-15 no assertion criteria provided literature only
GeneReviews RCV000020161 SCV000040488 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.