ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4632G>C (p.Met1544Ile) (rs1064797005)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481463 SCV000574318 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The M1544I 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 M1544I variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure as these residues sharesimilar properties. However, this substitution occurs at a position that is conserved across species, and two of three insilico models predict this variant is damaging to the protein structure/function. Nonetheless, this variant lacksobservation in a significant number of affected individuals, segregation data, and functional evidence, all of whichwould further clarify pathogenicity.
Blueprint Genetics RCV000481463 SCV000927531 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing

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