ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.7787del (p.Gly2596fs) (rs759990189)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208126 SCV001379501 pathogenic not provided 2020-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2596Valfs*35) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs759990189, ExAC 0.002%). This variant has been observed in individuals affected with dystrophic epidermolysis bullosa (PMID: 9242516, 21448560). This variant is also known as 7786delG in the literature. ClinVar contains an entry for this variant (Variation ID: 17441). Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001208126 SCV001754355 pathogenic not provided 2020-12-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 9242516, 24213372, 22515571, 24989707, 21448560, 29625052)
OMIM RCV000018991 SCV000039278 pathogenic Epidermolysis bullosa pruriginosa, autosomal recessive 1999-06-01 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.