ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2166G>A (p.Ala722=)

gnomAD frequency: 0.00012  dbSNP: rs367694667
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897712 SCV001041872 likely benign EGFR-related lung cancer 2025-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003476915 SCV004221879 benign not provided 2022-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004948144 SCV005579607 likely benign Hereditary cancer-predisposing syndrome 2024-08-21 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. RCV005246602 SCV005896742 benign Lung cancer 2024-10-16 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038382 SCV000062054 likely benign not specified 2009-03-18 no assertion criteria provided clinical testing

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