ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)

dbSNP: rs2143871845
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001386359 SCV001586550 pathogenic Glycogen storage disease, type II 2020-03-30 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). A different variant (c.1442G>A) giving rise to the same protein effect observed here (p.Trp481*) has been determined to be pathogenic (PMID: 22252923). This suggests that this variant is also likely to be causative of disease. This variant has not been reported in the literature in individuals with GAA-related conditions. This sequence change creates a premature translational stop signal (p.Trp481*) in the GAA gene. It is expected to result in an absent or disrupted protein product.
Arcensus RCV001386359 SCV002564605 pathogenic Glycogen storage disease, type II 2013-02-01 criteria provided, single submitter clinical testing

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.