ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) (rs1055960218)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780508 SCV000917822 likely pathogenic Familial aortopathy 2018-02-20 criteria provided, single submitter clinical testing Variant summary: MYH11 c.4846C>T (p.Arg1616X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which could be a mechanism for disease, although commonly missense mutations have been reported as a common mechanism for disease. The variant was absent in 119736 control chromosomes (ExAC). To our knowledge, no occurrence of c.4846C>T in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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