ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.8101G>T (p.Gly2701Trp) (rs1575418015)

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
Diagnostics Services, CSIR - Centre for Cellular and Molecular Biology RCV000991328 SCV001142133 likely pathogenic Recessive dystrophic epidermolysis bullosa; Pretibial epidermolysis bullosa; Epidermolysis bullosa pruriginosa 2019-12-17 criteria provided, single submitter clinical testing The c.8101G>T variant is not present in publicly available databases like 1000 Genomes and Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is also not present in our in-house exome database. The variant was earlier reported Human Genome Mutation Database (HGMD ID:CM117846) in other similarly affected individuals. In-silico pathogenicity prediction programs like Polyphen, SIFT, MutationTaster, CADD etc. Predicted this variant as likely deleterious. Based on ACMG guidelines the variant has been classified as likely pathogenic.

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.