ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2704G>A (p.Glu902Lys)

dbSNP: rs869130333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215718 SCV000272041 uncertain significance not specified 2014-12-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Glu902Lys variant in MYH7 has not been previously reported in individuals with cardiomyop athy and was absent from large population studies. Glutamic acid (Glu) at positi on 902 is highly conserved in evolution and the change to Lysine (Lys) was predi cted to be pathogenic using a computational tool clinically validated by our lab oratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Glu902Lys variant is uncertain.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253706 SCV001429555 uncertain significance Dilated cardiomyopathy 1S 2016-12-06 criteria provided, single submitter clinical testing

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