ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1630G>A (p.Gly544Ser)

gnomAD frequency: 0.00001  dbSNP: rs755584255
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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 RCV001364260 SCV001560395 uncertain significance EGFR-related lung cancer 2020-08-06 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glycine with serine at codon 544 of the EGFR protein (p.Gly544Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs755584255, ExAC 0.006%). This variant has not been reported in the literature in individuals with EGFR-related conditions.

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