ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.908A>T (p.Asp303Val)

gnomAD frequency: 0.00001  dbSNP: rs1785383001
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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 RCV001955412 SCV002211861 uncertain significance EGFR-related lung cancer 2021-09-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 303 of the EGFR protein (p.Asp303Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. 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 disruptive. 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.

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