ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs)

dbSNP: rs756897026
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
Biomedical Innovation Departament, CIEMAT RCV001352933 SCV001547556 pathogenic Epidermolysis bullosa dystrophica 2018-04-05 criteria provided, single submitter research
GeneDx RCV001566105 SCV001789577 pathogenic not provided 2019-12-13 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); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001566105 SCV003307943 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1048111). This variant has not been reported in the literature in individuals affected with COL7A1-related conditions. This variant is present in population databases (rs756897026, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ala1517Glyfs*3) in the COL7A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL7A1 are known to be pathogenic (PMID: 16971478).

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.