ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1282G>A (p.Gly428Ser)

dbSNP: rs1785501703
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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 RCV001203223 SCV001374376 uncertain significance EGFR-related lung cancer 2022-01-13 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. This variant disrupts the p.Gly428 amino acid residue in EGFR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24691054, 26436111, 32602142). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 934766). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 428 of the EGFR protein (p.Gly428Ser).

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