ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.925C>T (p.Arg309Ter)

dbSNP: rs1444692842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318196 SCV001508888 pathogenic EGFR-related lung cancer 2023-07-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1018840). For these reasons, this variant has been classified as Pathogenic. 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.Arg309*) 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).
Neurogenetics Research Program, University of Adelaide RCV001796440 SCV001737613 uncertain significance Cerebral palsy 2021-06-10 criteria provided, single submitter research

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