ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)

dbSNP: rs121913428
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Total submissions: 5
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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 RCV000038381 SCV000062053 pathogenic Non-small cell lung carcinoma 2013-01-04 criteria provided, single submitter clinical testing The Gly719Ala variant has been reported in isolation in individuals with increased sensitivity to gefitinib treatment (Han 2005).
Database of Curated Mutations (DoCM) RCV000038381 SCV000504234 pathogenic Non-small cell lung carcinoma 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426037 SCV000504235 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436293 SCV000504236 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Molecular Diagnostics Laboratory, University of Rochester Medical Center RCV000038381 SCV002506983 pathogenic Non-small cell lung carcinoma no assertion criteria provided curation

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