ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1678G>A (p.Glu560Lys) (rs879254086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236107 SCV000293411 pathogenic not provided 2015-11-18 criteria provided, single submitter clinical testing The E560K missense variant in the DNM2 gene has been reported previously in patients with centronuclear myopathy (Bitoun et al., 2009; Bohm et al., 2012). Functional studies suggest E560K is a hypermorphic variant which leads to T-tubule disorganization in muscle (Chin et al., 2015). The E560K 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. E560K 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, and missense variants in nearby residues (K562E, L570H) have been reported in the Human Gene Mutation Database in association with DNM2-related disorders (Stenson et al., 2014). Therefore, E560K is considered a pathogenic variant.

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