ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5296A>G (p.Met1766Val)

dbSNP: rs397516776
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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 RCV000037530 SCV000061188 uncertain significance not specified 2012-01-03 criteria provided, single submitter clinical testing The Met1766Val variant (MYH6) has not been previously reported nor previously id entified by our laboratory. Methionine (Met) at position 1766 is highly conserve d across mammals and other evolutionarily distant species, increasing the likeli hood that a change would not be tolerated. Computational predictions on the impa ct to the protein are mixed (PolyPhen2 = benign, SIFT = pathogenic), though the accuracy of these tools is unknown. Additional information is needed to fully as sess the clinical significance of the Met1766Val variant.

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