ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2284-5_2290dup (rs397517106)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038404 SCV000062076 likely pathogenic Non-small cell lung cancer 2011-07-01 criteria provided, single submitter clinical testing This variant is a duplication at the 5' intron/exon boundary of exon 20 which results in the insertion of four amino acids. This variant has previously been reported in the literature in one lung carcinoma (Chen 2008, COSMIC). Insertions in EGFR exon 20 such as this have been associated with resistance to EGFR tyrosine kinase inhibitors; however, the likelihood of responsiveness of this individual cannot be determined conclusively.

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.