ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1684G>C (p.Glu562Gln) (rs794729085)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183668 SCV000236137 uncertain significance not provided 2014-06-26 criteria provided, single submitter clinical testing p.Glu562Gln (GAA>CAA): c.1684 G>C in exon 13 of the NEXN gene (NM_144573.3). A variant of unknown significance has been identified in the NEXN gene. The E562Q variant has not been published as a mutation or as a benign polymorphism to our knowledge. The E562Q variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In addition, the E562Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is class conserved across species. In silico analysis is inconsistent in its predictions, however two models predict this variant likely does not alter the protein structure/function. Furthermore, no missense mutations in nearby residues have been in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. 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 DCM-CRDM panel(s).

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