ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)

dbSNP: rs2039149745
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 RCV001337394 SCV001530997 uncertain significance Glycogen storage disease, type II 2020-12-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 369 of the GAA protein (p.Leu369Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been reported to affect GAA protein function (PMID: 23430493). This variant has been observed in individual(s) with Pompe disease (PMID: 23430493). This variant is not present in population databases (ExAC no frequency).
Mendelics RCV001337394 SCV002516424 pathogenic Glycogen storage disease, type II 2022-05-04 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.