ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2509G>A (p.Asp837Asn)

gnomAD frequency: 0.00001  dbSNP: rs761920220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313576 SCV001504077 uncertain significance EGFR-related lung cancer 2022-10-24 criteria provided, single submitter clinical testing Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on EGFR function (PMID: 26280531). 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. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 837 of the EGFR protein (p.Asp837Asn). This variant is present in population databases (rs761920220, gnomAD 0.007%). 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: 1014793).

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