ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) (rs190316422)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182524 SCV000234871 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing The Arg1609Gln variant in the MYH11 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg1609Gln results in a semi-conservative amino acid substitution of a positively-charged Arginine with a neutral, polar Glutamine at a position that is conserved across most species. In silico analysis programs are not consistent in their predictions about the effect of Arg1609Gln on protein structure/function. Mutations in nearby residues have not been reported in association with TAAD, indicating this region of the protein may tolerate change. The Arg1609Gln variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, however, the 1000 Genomes database identified Arg1609Gln in 0.4% of alleles from individuals of African ancestry.With the clinical and molecular information available at this time, we cannot definitively determine if Arg1609Gln is a disease-causing mutation or a rare benign variant. The variant is found in TAAD panel(s).
Color RCV001181814 SCV001347045 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-04-09 criteria provided, single submitter clinical testing

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