ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) (rs369751362)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182523 SCV000234870 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH11 gene. The D1579N variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). TheD1579N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that isconserved across species. In silico analysis predicts this variant isprobably damaging to the protein structure/function.
Invitae RCV001088950 SCV000641052 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000778043 SCV000914157 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-31 criteria provided, single submitter clinical testing

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