ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4078C>G (p.Gln1360Glu) (rs1555553235)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523136 SCV000618909 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The Q1360E variant of uncertain significance in the MYH11 gene has not been published as pathogenic or been reported as benign to our knowledge. Q1360E is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q1360E variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Moreover, this substitution occurs at a position that is conserved in mammals. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function, and no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014).

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