ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2159C>G (p.Ser720Cys)

dbSNP: rs772799315
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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 RCV001991187 SCV002263023 uncertain significance EGFR-related lung cancer 2021-01-28 criteria provided, single submitter clinical testing 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"). 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 with EGFR-related conditions. This variant is present in population databases (rs772799315, ExAC 0.001%). This sequence change replaces serine with cysteine at codon 720 of the EGFR protein (p.Ser720Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine.

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