ClinVar Miner

Submissions for variant NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter) (rs118203900)

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 RCV000794274 SCV000933670 pathogenic not provided 2018-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys553*) in the LAMC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with junctional epidermolysis bullosa (PMID: 10951251). ClinVar contains an entry for this variant (Variation ID: 14557). Loss-of-function variants in LAMC2 are known to be pathogenic (PMID: 11907499, 16473856). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015658 SCV000035923 pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2000-08-01 no assertion criteria provided literature only

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.