ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) (rs780623622)

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
GeneDx RCV001008752 SCV001168534 pathogenic not provided 2018-07-26 criteria provided, single submitter clinical testing The c.6081dupC pathogenic variant in the COL7A1 gene has been reported previously in association with RDEB (Sawamura et al., 2005; Kern et al., 2009; van den Akker et al., 2009; Jerabkova, et al. 2010; Kopeckova et al., 2015). The duplication causes a frameshift starting with codon Gly2028, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 71 of the new reading frame, denoted p.Gly2028ArgfsX71. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV001008752 SCV001407015 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2028Argfs*71) 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 several individuals affected with COL7A1-related conditions (PMID: 12813757, 30280950). 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 RCV001352759 SCV001547341 pathogenic Dystrophic epidermolysis bullosa 2011-08-12 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.