ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.152G>T (p.Trp51Leu) (rs397516702)

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, Partners HealthCare Personalized Medicine RCV000037266 SCV000060923 uncertain significance not specified 2016-02-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Trp51Leu variant in DSG2 has been identified by our laboratory in the homozygous state in 1 individual with ARVC and segregated with disease in a homozygous state in an affected relative. It was absent from large population studies. Computational pr ediction tools and conservation analysis suggest that the p.Trp51Leu variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, while there is some suspicion for a pathogenic rol e, the clinical significance of the p.Trp51Leu variant is uncertain.

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.