ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1822T>G (p.Leu608Val)

dbSNP: rs1555338124
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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 RCV000600631 SCV000712087 uncertain significance not specified 2016-05-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Leu608Val variant in MYH7 has not been previously reported in individuals with cardiomyop athy or in large population studies. This variant was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical si gnificance of the p.Leu608Val variant is uncertain.

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