ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1438C>A (p.Leu480Met)

dbSNP: rs147732025
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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 RCV001932124 SCV002123917 uncertain significance EGFR-related lung cancer 2020-11-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EGFR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 is not present in population databases (ExAC no frequency). This sequence change replaces leucine with methionine at codon 480 of the EGFR protein (p.Leu480Met). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and methionine.

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