ClinVar Miner

Submissions for variant NM_000094.3(COL7A1):c.3551-3T>G (rs773263825)

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 RCV000579315 SCV000680512 likely pathogenic not provided 2017-11-24 criteria provided, single submitter clinical testing The c.3551-3T>G variant in the COL7A1 gene has been observed previously in combination with another COL7A1 variant in multiple individuals in published literature and in unrelated patients referred for genetic testing at GeneDx (Kern et al., 2006; van den Akker et al., 2009; Jerabkova et al., 2010; Kopeckova et al., 2016). This variant is predicted to damage or destroy the natural splice acceptor site in intron 26, and is expected to cause abnormal gene splicing. The c.3551-3T>G variant is not observed in large population cohorts (Lek et al., 2016). According to the ACMG criteria we interpret c.3551-3T>G as a likely pathogenic variant.
Natera, Inc. RCV001272363 SCV001454275 likely pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive 2020-09-16 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.