ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1615C>T (p.Arg539Cys) (rs373680705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183666 SCV000236135 uncertain significance not provided 2013-01-11 criteria provided, single submitter clinical testing p.Arg539Cys (CGC>TGC): c.1615 C>T in exon 12 of the NEXN gene (NM_144573.3). The Arg539Cys variant in the NEXN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg539Cys results in a semi-conservative amino acid substitution of a positively charged Arginine with a neutral, polar Cystein at a position that is highly conserved across species. In silico analysis predicts Arg539Cys is damaging to the protein structure/function. The Arg539Cys variant was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Nevertheless, only very few NEXN mutations have been reported in association with cardiomyopathy to date, and none of those were located nearby. With the clinical and molecular information available at this time, we cannot definitively determine if Arg539Cys in the NEXN gene is a disease-causing mutation or rare benign variant. The variant is found in DCM panel(s).

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