ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.476T>G (p.Val159Gly)

dbSNP: rs1794779031
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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 RCV002048302 SCV002305548 uncertain significance EGFR-related lung cancer 2023-05-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EGFR-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1514602). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 159 of the EGFR protein (p.Val159Gly).

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