ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2251C>T (p.Arg751Trp) (rs373475448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183422 SCV000235881 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing p.Arg751Trp (CGG>TGG): c.2251 C>T in exon 18 of the DMD gene (NM_004006.2). A variant of unknown significance has been identified in the DMD gene. The R751W variant has not been published as a mutation or as a benign polymorphism to our knowledge. The R751W variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R571W 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. In addition, this substitution occurs at a position that is conserved across species. Moreover, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with DMD-related disorder, indicating this region of the protein may be tolerant of change. Finally, the majority of disease-causing mutations in the DMD gene are exon-level deletions or duplications. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).
Blueprint Genetics RCV000208236 SCV000263832 uncertain significance Primary dilated cardiomyopathy 2015-08-10 criteria provided, single submitter clinical testing

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