ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)

gnomAD frequency: 0.00001  dbSNP: rs587778249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226299 SCV001398610 uncertain significance EGFR-related lung cancer 2023-11-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 524 of the EGFR protein (p.Val524Ile). This variant is present in population databases (rs587778249, gnomAD 0.009%). 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: 134022). 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 with a negative predictive value of 80%. 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.
Mendelics RCV000120691 SCV002519152 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153387 SCV003843535 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
ITMI RCV000120691 SCV000084852 not provided not specified 2013-09-19 no assertion provided reference population

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