ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)

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 RCV001240344 SCV001413278 pathogenic not provided 2019-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val769Phefs*3) in the COL7A1 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 recessive dystrophic epidermolysis bullosa (PMID: 26148662, 19681861). 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 COL7A1 are known to be pathogenic (PMID: 16971478). For these reasons, this variant has been classified as Pathogenic.
Biomedical Innovation Departament, CIEMAT RCV001352797 SCV001547292 pathogenic Dystrophic epidermolysis bullosa 2018-03-26 criteria provided, single submitter research
GeneDx RCV001240344 SCV001783335 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing Frame-shift 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 in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33274474, 19681861, 26148662)

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.