Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |