ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) (rs886037891)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000256393 SCV000299219 pathogenic Cowden syndrome 1 2016-08-24 no assertion criteria provided research - Mutation has not been reported in 1000G, NHLBI-ESP, and ExAC databases - Mutation occurs in a highly conserved amino acid residue - Predicted as damaging according to multiple computational algorithms (SIFT, PolyPhen-2, MutationTaster, MutPred, Condel, and Project HOPE) - Functional data supportive of a gain-of-function effect

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