ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg) (rs587783598)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235945 SCV000292784 pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing The P627R mutation in the DNM2 gene has been reported previously in an affected mother and daughter who had childhood-onset centronuclear myopathy (CNM). They both had walking difficulties, reduced vital capacity, diffuse muscle weakness, and facial weakness (Bohm et al., 2012). Additionally, another missense mutation at the same position (P627H) and multiple missense mutations in nearby residues (A618T/D, S619L/W, L621P) have been reported in the Human Gene Mutation Database in association with CNM (Stenson et al., 2014). The P627R mutation is a non-conservative amino acid substitution that alters a highly conserved residue predicted to be within the linker domain between the pleckstrin homology (PH) domain and GTPase effector domain (GED) (Bohm et al., 2012). Therefore, the presence of the P672R mutation is consistent with a diagnosis of centronuclear myopathy
Genetic Services Laboratory, University of Chicago RCV000145910 SCV000193047 likely pathogenic Myopathy, centronuclear 2013-02-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.