ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) (rs751495086)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182529 SCV000234877 uncertain significance not provided 2017-03-06 criteria provided, single submitter clinical testing p.Arg1792Gln (CGG>CAG): c.5375 G>A in exon 38 of the MYH11 gene (NM_002474.2)The Arg1792Gln variant in the MYH11 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg1792Gln 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 species. In silico analysis predicts Arg1792Gln is possibly damaging to the protein structure/function. The Arg1792Gln variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby codons have been reported in association with TAAD. With the clinical and molecular information available at this time, we cannot definitively determine if Arg1792Gln is a disease-causing mutation or a rare benign variant. The variant is found in TAAD panel(s).
Color RCV001186484 SCV001352920 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-02-04 criteria provided, single submitter clinical testing

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