Submissions for variant NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del)

dbSNP: rs121913421

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002514895	SCV003225329	uncertain significance	EGFR-related lung cancer	2022-08-27	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 163343). This variant, c.2235_2249del, results in the deletion of 5 amino acid(s) of the EGFR protein (p.Glu746_Ala750del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). While this variant has not been reported in the germline of individuals with EGFR-related disease, it is a commonly reported somatic change in lung cancer (PMID: 26066407, 29228562). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research	RCV003128584	SCV003806296	pathogenic	Lung adenocarcinoma	2022-06-06	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150617	SCV000197913	drug response	Tyrosine kinase inhibitor response	2006-10-28	no assertion criteria provided	clinical testing
Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University	RCV003128584	SCV004042727	likely pathogenic	Lung adenocarcinoma		no assertion criteria provided	clinical testing