ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp)

gnomAD frequency: 0.00019  dbSNP: rs116057045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001063593 SCV001228447 uncertain significance EGFR-related lung cancer 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 519 of the EGFR protein (p.Glu519Asp). This variant is present in population databases (rs116057045, gnomAD 0.06%). 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: 857836). 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 RCV003492217 SCV004232576 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731085 SCV005339304 uncertain significance EGFR-related disorder 2024-08-20 no assertion criteria provided clinical testing The EGFR c.1557G>T variant is predicted to result in the amino acid substitution p.Glu519Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of African descent in gnomAD. This variant is interpreted as a variant of uncertain significance or likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/857836/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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