ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1328G>C (p.Arg443Pro)

dbSNP: rs202096001
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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 RCV000156769 SCV000206490 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Arg443Pro variant in MYH6 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 Arg443Pro variant is uncert ain.

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