ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.183+1G>A (rs727503120)

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
Invitae RCV000150913 SCV000549124 pathogenic Danon disease 2017-11-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the LAMP2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). This particular variant has been reported in the literature in an individual with hypertrophic cardiomyopathy (PMID: 27532257) and individuals with Danon disease (PMID: 21415759, Invitae). ClinVar contains an entry for this variant (Variation ID: 163816). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000844641 SCV000198532 likely pathogenic Hypertrophic cardiomyopathy 2013-02-11 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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.