ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)

dbSNP: rs1567692384
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Total submissions: 2
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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, King Abdulaziz Medical City RCV000696364 SCV001190841 pathogenic Aortic aneurysm, familial thoracic 4 2020-02-05 no assertion criteria provided clinical testing

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