Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002524690 | SCV003508529 | uncertain significance | EGFR-related lung cancer | 2023-08-11 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change affects EGFR function (PMID: 27294619). 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. ClinVar contains an entry for this variant (Variation ID: 376082). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. This variant is present in population databases (rs121913418, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 761 of the EGFR protein (p.Asp761Asn). |
Database of Curated Mutations |
RCV000425618 | SCV000505069 | likely pathogenic | Non-small cell lung carcinoma | 2015-07-14 | no assertion criteria provided | literature only |