ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.293G>A (p.Arg98Gln)

gnomAD frequency: 0.00009  dbSNP: rs17289589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065747 SCV001230722 uncertain significance EGFR-related lung cancer 2025-01-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 98 of the EGFR protein (p.Arg98Gln). This variant is present in population databases (rs17289589, gnomAD 0.05%). 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: 859594). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt EGFR protein function with a negative predictive value of 80%. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252310 SCV002523869 uncertain significance See cases 2020-11-06 criteria provided, single submitter clinical testing ACMG classification criteria: BP4
GeneDx RCV004768843 SCV005379985 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing Has not been previously published as a pathogenic or benign germline variant to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Cerro2016[article], 23810757)
Ambry Genetics RCV004950232 SCV005579638 benign Hereditary cancer-predisposing syndrome 2024-10-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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