ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) (rs1057517724)

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
GeneDx RCV000412944 SCV000490494 pathogenic not provided 2017-07-27 criteria provided, single submitter clinical testing The c.5605 G>C variant in the COL7A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant has been observed in the homozygous state in a patient referred for genetic testing for epidermolysis bullosa at GeneDx (parents not tested). The c.5605 G>C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In-silico splice prediction models predict that c.5605 G>C may damage the splice acceptor site in intron 66, which may cause abnormal gene splicing. If c.5605 G>C does not alter splicing, it will result in the G1869R missense change. The G1869R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, affecting a Glycine residue of the triple-helical region containing Gly-X-Y repeats. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret c.5605 G>C as a pathogenic variant.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761300 SCV000891276 likely pathogenic Recessive dystrophic epidermolysis bullosa 2018-02-13 criteria provided, single submitter clinical testing

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.