ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln)

dbSNP: rs1489158055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987883 SCV001137369 uncertain significance Lung carcinoma 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534480 SCV003506184 uncertain significance EGFR-related lung cancer 2023-05-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 829 of the EGFR protein (p.Glu829Gln). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EGFR protein function. ClinVar contains an entry for this variant (Variation ID: 584696).

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