ClinVar Miner

Submissions for variant NM_000227.5(LAMA3):c.1678del (p.Val560fs) (rs1057516476)

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
Counsyl RCV000409334 SCV000485740 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2016-02-05 criteria provided, single submitter clinical testing
Invitae RCV001039309 SCV001202835 pathogenic not provided 2019-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val560Cysfs*39) in the LAMA3 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 in individual(s) with junctional epidermolysis bullosa (PMID: 12943669). This variant is also known as 1644delG in the literature. ClinVar contains an entry for this variant (Variation ID: 370424). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in LAMA3 are known to be pathogenic (PMID: 10366601, 11810295, 12915477, 16473856, 17362460, 23869449, 28087116). 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.