ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2745T>A (p.Tyr915Ter)

dbSNP: rs1275784384
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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 RCV001236060 SCV001408772 pathogenic EGFR-related lung cancer 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 962242). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr915*) 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).

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