Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696364 | SCV000824922 | pathogenic | Aortic aneurysm, familial thoracic 4 | 2018-08-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MYH11-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MYH11 are known to be pathogenic (PMID: 25407000, 29575632). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1683Argfs*3) in the MYH11 gene. It is expected to result in an absent or disrupted protein product. |
Biochemical Molecular Genetic Laboratory, |
RCV000696364 | SCV001190841 | pathogenic | Aortic aneurysm, familial thoracic 4 | 2020-02-05 | no assertion criteria provided | clinical testing |