ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2281G>A (p.Asp761Asn)

gnomAD frequency: 0.00003  dbSNP: rs121913418
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002524690 SCV003508529 uncertain significance EGFR-related lung cancer 2023-08-11 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. Experimental studies have shown that this missense change affects EGFR function (PMID: 27294619). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 376082). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is present in population databases (rs121913418, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 761 of the EGFR protein (p.Asp761Asn).
Database of Curated Mutations (DoCM) RCV000425618 SCV000505069 likely pathogenic Non-small cell lung carcinoma 2015-07-14 no assertion criteria provided literature only

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