ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2597A>G (p.Glu866Gly) (rs886039171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244577 SCV000320449 uncertain significance Cardiovascular phenotype 2015-11-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
GeneDx RCV000443085 SCV000536411 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH6 gene. The E866G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E866G 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 in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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