ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2448C>T (p.Asn816=)

dbSNP: rs544240809
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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 RCV001499903 SCV001704678 likely benign EGFR-related lung cancer 2024-11-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259135 SCV002537351 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-07 criteria provided, single submitter curation
Ambry Genetics RCV002259135 SCV005116608 likely benign Hereditary cancer-predisposing syndrome 2024-04-04 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. RCV005247242 SCV005899567 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.
PreventionGenetics, part of Exact Sciences RCV004731159 SCV005338973 likely benign EGFR-related disorder 2024-06-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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