ClinVar Miner

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

dbSNP: rs397517106
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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 RCV000038404 SCV000062076 likely pathogenic Non-small cell lung carcinoma 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.

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