ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)

gnomAD frequency: 0.00062  dbSNP: rs149174093
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709022 SCV000838223 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000947013 SCV001093177 likely benign EGFR-related lung cancer 2025-01-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258796 SCV002537697 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation
Ambry Genetics RCV002258796 SCV005579566 benign Hereditary cancer-predisposing syndrome 2024-08-23 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.
ITMI RCV000120699 SCV000084860 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000120699 SCV003839464 uncertain significance not specified 2022-06-20 no assertion criteria provided clinical testing DNA sequence analysis of the EGFR gene demonstrated a sequence change, c.3467A>C, in exon 28 that results in an amino acid change, p.His1156Pro. This sequence change does not appear to have been previously described in individuals with EGFR-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.18% in the African subpopulation (dbSNP rs149174093). The p.His1156Pro change affects a poorly conserved amino acid residue located in a domain of the EGFR protein that is known to be functional. The p.His1156Pro substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.His1156Pro change remains unknown at this time.

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