ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2237_2246delinsC (p.Glu746_Glu749delinsAla)

dbSNP: rs727504444
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155025 SCV000204708 drug response Tyrosine kinase inhibitor response 2012-04-04 criteria provided, single submitter clinical testing The 2237_2246delinsC variant in exon 19 of EGFR has not been previously reported in the literature or identified by our laboratory. This variant results in an in-frame deletion and insertion and is located in the protein kinase domain of EGFR. In-frame deletions in the kinase domain of EGFR have been shown to correlate with responsiveness to tyrosine-kinase inhibitor (TKI, Paez 2004, Lynch 2004).

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