ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) (rs397517109)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150613 SCV000197904 drug response Tyrosine kinase inhibitor response 2012-06-01 criteria provided, single submitter clinical testing Ser768_Asp770dup has been reported in the literature in at least four individuals that have been treated with an EGFR tyrosine kinase inhibitor (gefitinib; Wu 2008). Three of these individuals exhibited progressive disease and one individual exhibited partial response as the maximal response. Insertions in exon 20 of EGFR such as this have been associated with resistance to EGFR tyrosine kinase inhibitors in vitro (Greulich 2005).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038409 SCV000062081 likely pathogenic Non-small cell lung cancer 2006-10-28 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.