ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) (rs139418145)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182533 SCV000234881 uncertain significance not provided 2013-07-17 criteria provided, single submitter clinical testing p.Glu1861Lys (GAG>AAG): c.5581 G>A in exon 39 of the MYH11 gene (NM_002474.2). The Glu1861Lys variant in the MYH11 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Glu1861Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at a position that is conserved across species. In silico analysis predicts Glu1861Lys is possibly damaging to the protein structure/function. The Glu1861Lys variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Nevertheless, no mutations in nearby residues have been reported in association with TAAD. With the clinical and molecular information available at this time, we cannot definitively determine if Glu1861Lys is a disease-causing mutation or a rare benign variant. The variant is found in TAAD panel(s).
Color RCV001185744 SCV001352011 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-06-19 criteria provided, single submitter clinical testing

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