ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1860_1861delinsAA (p.Cys620_His621delinsTer)

dbSNP: rs2128946495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960534 SCV002229251 pathogenic EGFR-related lung cancer 2021-10-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EGFR-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Cys620*) in the EGFR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EGFR are known to be pathogenic (PMID: 7630400, 28726809, 29899996). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database.

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