ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.2005C>T (p.Leu669Phe) (rs774194309)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480554 SCV000573886 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEXN gene. The L669F variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L669F substitution occurs at a position that is conserved across species. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, the L669F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000624596 SCV000740646 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-12-30 criteria provided, single submitter clinical testing

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