ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)

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 RCV001224120 SCV001396300 pathogenic not provided 2020-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1712Hisfs*131) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with recessive dystrophic epidermolysis bullosa (PMID: 31001817). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV001352851 SCV001547317 pathogenic Dystrophic epidermolysis bullosa 2018-12-04 criteria provided, single submitter research

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.