ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.874G>A (p.Asp292Asn) (rs373377525)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183684 SCV000236153 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEXN gene. The D292N 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 D292N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170726 SCV001333329 uncertain significance Cardiomyopathy 2018-02-16 criteria provided, single submitter clinical testing

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