ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3566G>A (p.Gly1189Asp)

dbSNP: rs747600559
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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 RCV001317274 SCV001507928 uncertain significance EGFR-related lung cancer 2023-06-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1018033). 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. This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1189 of the EGFR protein (p.Gly1189Asp).
Ambry Genetics RCV004951519 SCV005579683 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-15 criteria provided, single submitter clinical testing The p.G1189D variant (also known as c.3566G>A), located in coding exon 28 of the EGFR gene, results from a G to A substitution at nucleotide position 3566. The glycine at codon 1189 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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