ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1633G>A (p.Glu545Lys)

gnomAD frequency: 0.00004  dbSNP: rs778985185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359242 SCV001555105 uncertain significance EGFR-related lung cancer 2023-02-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1051231). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 545 of the EGFR protein (p.Glu545Lys). This variant is present in population databases (rs778985185, gnomAD 0.008%).
Sema4, Sema4 RCV002258221 SCV002537323 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-28 criteria provided, single submitter curation

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