ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2993-2A>G (rs1553612928)

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 RCV000603511 SCV000712468 likely pathogenic Dystrophic epidermolysis bullosa 2016-09-05 criteria provided, single submitter clinical testing The c.2993-2A>G variant in COL7A1 has not been reported in patients and it was a bsent from large population studies. This variant occurs in the invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered sp licing leading to an abnormal or absent protein. Most splice variants in COL7A1 reported to date have been associated with autosomal recessive epidermolysis bul losa dystrophica, although there are reports of splice variants resulting in the dominant form of the disease. In summary, although additional studies are requi red to fully establish its clinical significance, the c.2993-2A>G variant in COL 7A1 is likely pathogenic for epidermolysis bullosa dystrophica in an autosomal r ecessive manner.

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.