ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3224G>T (p.Gly1075Val)

dbSNP: rs1161834426
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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 RCV001972303 SCV002212832 uncertain significance EGFR-related lung cancer 2024-09-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1075 of the EGFR protein (p.Gly1075Val). This variant is not present in population databases (gnomAD no frequency). 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: 1435525). 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. 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 RCV004946906 SCV005579575 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-09 criteria provided, single submitter clinical testing The p.G1075V variant (also known as c.3224G>T), located in coding exon 27 of the EGFR gene, results from a G to T substitution at nucleotide position 3224. The glycine at codon 1075 is replaced by valine, an amino acid with dissimilar 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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