ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3237G>C (p.Glu1079Asp)

dbSNP: rs184614596
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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 RCV001322227 SCV001513089 uncertain significance EGFR-related lung cancer 2022-10-14 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. 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. ClinVar contains an entry for this variant (Variation ID: 1022337). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is present in population databases (rs184614596, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1079 of the EGFR protein (p.Glu1079Asp).

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