ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3191G>T (p.Ser1064Ile)

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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 RCV003536844 SCV004321938 uncertain significance EGFR-related lung cancer 2023-08-27 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1064 of the EGFR protein (p.Ser1064Ile).

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