ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.62C>T (p.Thr21Ile) (rs794729081)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183647 SCV000236116 uncertain significance not provided 2013-07-09 criteria provided, single submitter clinical testing The Thr21Ile variant in the NEXN gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr21Ile results in a non-conservative amino acid substitution of a polar Threonine with a non-polar Isoleucine at a position that is class conserved across species. In silico analysis predicts Thr21Ile is benign to the protein structure/function. Also, no mutations in nearby residues have been reported in association with cardiomyopathy. However, the Thr21Ile 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. This variant is found in DCM panel(s).

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