ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.6269del (p.Pro2090fs)

dbSNP: rs2044195570
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
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814492 SCV001755465 pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558838 SCV004292720 pathogenic not provided 2022-12-23 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: 1180763). This variant is also known as c.6265delC, p.Pro2089fs. This premature translational stop signal has been observed in individual(s) with autosomal recessive epidermolysis bullosa (PMID: 27746867). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2090Leufs*116) 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).
Narges Medical Genetic and Prenatal Diagnosis Lab RCV003328126 SCV004035050 pathogenic Recessive dystrophic epidermolysis bullosa no assertion criteria provided 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.