ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1443T>G (p.Phe481Leu)

gnomAD frequency: 0.00001  dbSNP: rs587778247
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515838 SCV002967564 uncertain significance EGFR-related lung cancer 2023-08-01 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is not expected to disrupt EGFR protein function. ClinVar contains an entry for this variant (Variation ID: 134019). 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 replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 481 of the EGFR protein (p.Phe481Leu).
ITMI RCV000120688 SCV000084849 not provided not specified 2013-09-19 no assertion provided reference population

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