ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1093+2538G>A

dbSNP: rs1602530706
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825946 SCV000967431 uncertain significance not specified 2018-10-11 criteria provided, single submitter clinical testing The p.Gly399Ser variant in LAMP2 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine path ogenicity. In summary, the clinical significance of the p.Gly399Ser variant is u ncertain. ACMG/AMP Criteria applied: PM2, PP3.

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.