ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)

dbSNP: rs876657649
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, Mass General Brigham Personalized Medicine RCV000223064 SCV000271236 likely pathogenic Laminopathy 2015-11-11 criteria provided, single submitter clinical testing The p.Asp370Glu variant in LMNA has been identified by our laboratory in 1 indiv idual with muscle weakness and progressive contractures, and occurred de novo. T his variant was absent from large population studies. Computational prediction t ools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinic al significance, the p.Asp370Glu variant is likely 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.