ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.3265C>T (p.Gln1089Ter) (rs1553612617)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000578178 SCV000680021 likely pathogenic Recessive dystrophic epidermolysis bullosa 2017-08-30 criteria provided, single submitter clinical testing The NM_000094.3(COL7A1):c.3265C>T heterozygous nonsense variant was identified in exon 24 of COL7A1. This nonsense variant introduces a stop codon at amino acid position 1089, NP_000085.1(COL7A1):p.(Gln1089*). This variant is predicted to result in loss of protein function either through truncation (>50% of the protein, including multiple triple helix repeats) or nonsense-mediated decay. This variant is not present in the gnomAD population database and has not been previously observed in other clinical cases. However, other truncating variants downstream of c.3265C>T in COL7A1 have been reported as pathogenic in individuals with dystrophic epidermolysis bullosa (ClinVar). Based on current information and in association with the NM_000094.3(COL7A1):c.1732C>T nonsense variant, this variant has been classified as LIKELY PATHOGENIC. The presence of these two nonsense variants suggests a possible compound heterozygous mode of inheritance which is consistent with dystrophic epidermolysis bullosa.

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.