ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser)

dbSNP: rs1057519861
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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 RCV002521504 SCV003225331 uncertain significance EGFR-related lung cancer 2022-08-27 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 376342). While this variant has not been reported in the germline of individuals with EGFR-related disease, it is a commonly reported somatic change in lung cancer (PMID: 25939061, 25948633). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 797 of the EGFR protein (p.Cys797Ser).
Database of Curated Mutations (DoCM) RCV000440892 SCV000505706 not provided Non-small cell lung carcinoma 2016-03-10 no assertion provided literature only

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