ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.676A>C (p.Lys226Gln)

dbSNP: rs2128933753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001988213 SCV002265969 uncertain significance EGFR-related lung cancer 2021-02-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 226 of the EGFR protein (p.Lys226Gln). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with EGFR-related conditions. This variant is not present in population databases (ExAC no frequency).
Fulgent Genetics, Fulgent Genetics RCV002507745 SCV002777611 uncertain significance Inflammatory skin and bowel disease, neonatal, 2; Lung cancer 2021-09-10 criteria provided, single submitter clinical testing

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