ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) (rs138206921)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478153 SCV000565733 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The V1879I variant has not been published as pathogenic or been reported as benign to our knowledge. The V1879I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Moreover, this substitution occurs at a position where amino acids with similar properties to valine are tolerated across species. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Lastly, the Exome Aggregation Consortium reports V1879I was observed in 12/6614 (0.2%) alleles from individuals of European (Finnish) background (Lek et al., 2016).
Invitae RCV001089216 SCV000641076 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659929 SCV000781833 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000777832 SCV000913831 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-11 criteria provided, single submitter clinical testing

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