ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2492G>A (p.Arg831His)

gnomAD frequency: 0.00003  dbSNP: rs150036236
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677875 SCV000804036 pathogenic Squamous cell lung carcinoma 2017-09-06 criteria provided, single submitter clinical testing
3DMed Clinical Laboratory Inc RCV000677878 SCV000804039 pathogenic Lung adenocarcinoma 2017-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001055076 SCV001219441 uncertain significance EGFR-related lung cancer 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 831 of the EGFR protein (p.Arg831His). This variant is present in population databases (rs150036236, gnomAD 0.02%). This missense change has been observed in individual(s) with lung cancer or prostate cancer or isolated hypogonadotropic hypogonadism (PMID: 30098700, 30610926, 31721094, 32978518). ClinVar contains an entry for this variant (Variation ID: 560007). 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on EGFR function (PMID: 20942962, 25382819, 27294619, 32978518). 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.
Genetic Services Laboratory, University of Chicago RCV001816686 SCV002066811 uncertain significance not specified 2021-07-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257925 SCV002537353 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-18 criteria provided, single submitter curation
Ambry Genetics RCV002257925 SCV005579618 likely benign Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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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