ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val)

gnomAD frequency: 0.00001  dbSNP: rs78244461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905169 SCV001049739 likely benign EGFR-related lung cancer 2025-01-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145232 SCV003831829 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004950037 SCV005579648 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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