ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3506A>G (p.Asn1169Ser)

gnomAD frequency: 0.00001  dbSNP: rs751701731
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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 RCV001316167 SCV001506772 uncertain significance EGFR-related lung cancer 2024-08-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1169 of the EGFR protein (p.Asn1169Ser). This variant is present in population databases (rs751701731, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017073). 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 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.
Ambry Genetics RCV004951512 SCV005574694 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-22 criteria provided, single submitter clinical testing The p.N1169S variant (also known as c.3506A>G), located in coding exon 28 of the EGFR gene, results from an A to G substitution at nucleotide position 3506. The asparagine at codon 1169 is replaced by serine, an amino acid with highly 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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