ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter)

dbSNP: rs397515888
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Total submissions: 1
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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 RCV000035372 SCV000059020 pathogenic Hypertrophic cardiomyopathy 2010-08-13 criteria provided, single submitter clinical testing The Glu386X variant has not been reported in the literature nor has it been prev iously detected by our laboratory. This variant leads to a premature stop at co don 386, which is then predicted to lead to a truncated or absent protein (loss of function). Loss of function of the MYBPC3 gene is an established disease mech anism in HCM patients, which makes it highly likely that the Glu386X variant is pathogenic.

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