ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) (rs749012928)

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 RCV000700660 SCV000829425 pathogenic Charcot-Marie-Tooth disease type 2P 2018-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu565Argfs*36) in the LRSAM1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs749012928, ExAC 0.002%). This variant has not been reported in the literature in individuals with LRSAM1-related disease. Loss-of-function variants in LRSAM1 are known to be pathogenic (PMID: 20865121). For these reasons, this variant has been classified as Pathogenic.

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.