ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.929-197_1070del

dbSNP: rs2147278850
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
Invitae RCV001388566 SCV001589601 pathogenic Danon disease 2016-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in LAMP2 are known to be pathogenic (PMID: 21415759). This sequence change affects an acceptor splice site in intron 7 of the LAMP2 gene and also removes 142 nucleotides from exon 8. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.

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.