ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1934T>C (p.Met645Thr) (rs879253969)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235400 SCV000292995 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing The M645T variant in the DNM2 gene has not been published as a pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The M645T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The M645T 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 across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (P647R, E650K) have been reported in the Human Gene Mutation Database in association with centronuclear myopathy (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret M645T as a variant of unknown significance

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