Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001294693 | SCV001483581 | uncertain significance | EGFR-related lung cancer | 2024-07-03 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 430 of the EGFR protein (p.Thr430Ser). 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: 998791). 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. |
| Fulgent Genetics, |
RCV005038029 | SCV005668403 | uncertain significance | Inflammatory skin and bowel disease, neonatal, 2; Lung cancer | 2024-02-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV005328669 | SCV005998086 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-12-20 | criteria provided, single submitter | clinical testing | The p.T430S variant (also known as c.1288A>T), located in coding exon 11 of the EGFR gene, results from an A to T substitution at nucleotide position 1288. The threonine at codon 430 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |