ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2368A>G (p.Met790Val)

dbSNP: rs764284030
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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 RCV000216052 SCV000272010 uncertain significance not specified 2015-04-01 criteria provided, single submitter clinical testing The p.Met790Val variant in MYH6 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analyses suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of the p.Met790Val variant is uncertain.

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