ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) (rs794728668)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182518 SCV000234864 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing The D1435N variant in the MYH11 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The D1435N variant was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The D1435N variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. The D1435 residue is highly conserved across species. In silico analysis predicts D1435N is probably damaging to the protein structure/function. However, no mutations in nearby residues have been reported in association with TAAD, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if D1435N is a disease-causing mutation or a rare benign variant. The variant is found in TAAD panel(s).
Color RCV000771911 SCV000904677 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-04-08 criteria provided, single submitter clinical testing

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