ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2487G>A (p.Glu829=)

gnomAD frequency: 0.00198  dbSNP: rs41420046
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243379 SCV000310915 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901145 SCV001045500 benign EGFR-related lung cancer 2025-02-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257619 SCV002537352 benign Hereditary cancer-predisposing syndrome 2021-04-23 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000243379 SCV002774379 benign not specified 2021-08-25 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316423 SCV004017431 benign Lung cancer 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712200 SCV005271155 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004712200 SCV005435725 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing EGFR: BP4, BP7
Ambry Genetics RCV002257619 SCV005579572 likely benign Hereditary cancer-predisposing syndrome 2024-08-09 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.
Myriad Genetics, Inc. RCV003316423 SCV005895522 benign Lung cancer 2024-10-17 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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