ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5787-4714dup (rs747392139)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080935 SCV000285803 benign Aortic aneurysm, familial thoracic 4 2020-10-05 criteria provided, single submitter clinical testing
GeneDx RCV000482351 SCV000565751 likely benign not specified 2017-11-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770685 SCV000902152 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-05-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000228343 SCV001150812 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770685 SCV001344540 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000482351 SCV001362297 likely benign not specified 2019-04-01 criteria provided, single submitter clinical testing Variant summary: MYH11 c.5819dupC (p.Gln1941ThrfsX20) changes the termination codon and is predicted to lead to an extended protein with additional amino acids added to the normal C-terminus. MYH11 c.5819dupC (p.Gln1941ThrfsX20) causes a frameshift which results in an extension of the protein. The variant allele was found at a frequency of 0.0038 in 81378 control chromosomes, predominantly at a frequency of 0.0048 within the Non-Finnish European subpopulation in the ExAC database. The observed variant frequency within Non-Finnish European control individuals in the ExAC database is approximately 3840 fold of the estimated maximal expected allele frequency for a pathogenic variant in MYH11 causing Aortopathy phenotype (1.3e-06), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no occurrence of c.5819dupC in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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