ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.859T>C (p.Tyr287His)

dbSNP: rs727503273
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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 RCV000151305 SCV000199257 uncertain significance not specified 2014-07-18 criteria provided, single submitter clinical testing The Tyr287His variant in MYH7 has not been previously reported in individuals wi th cardiomyopathy and was absent from large population studies. Computational pr ediction tools and conservation analysis suggest that this variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the Tyr287His variant is uncert ain.

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