ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5267A>G (p.Lys1756Arg) (rs746064687)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497445 SCV000590161 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing The K1756R variant has not been publishedas pathogenic or been reported as benign to our knowledge. Furthermore, it is not observed at a significant frequencyin large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).Although this substitution occurs at a position that is conserved across species, the K1756R variant is a conservativeamino acid substitution, which is not likely to impact secondary protein structure as these residues share similarproperties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to theprotein structure/function.

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