ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) (rs151101824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182522 SCV000234869 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH11 gene. The K1573E variant has been reported in one patient with sudden unexplained death who also harbored other potentially disease-causing variants (Hata et al., 2017). 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). The K1573E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Color RCV001186508 SCV001352957 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-11-16 criteria provided, single submitter clinical testing

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