ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) (rs1005977032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478759 SCV000574392 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing The Q1829E variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed in large population cohorts(Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q1829E variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ insome properties. In addition, this substitution occurs at a position that is conserved across species, and two of threein silico models predict this variant is probably damaging to the protein structure/function. Nonetheless, this variantlacks observation in a significant number of affected individuals, segregation data, and functional evidence, all ofwhich would further clarify pathogenicity.

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