ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg)

dbSNP: rs1051476261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709020 SCV000838221 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001234810 SCV001407470 uncertain significance EGFR-related lung cancer 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1082 of the EGFR protein (p.Ile1082Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 584701). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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