ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.1911C>A (p.Tyr637Ter) (rs772833406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183671 SCV000236140 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing The Y637X variant in the NEXN gene has not been reported as a pathogenic or benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y637X variant is is expected to result in a prematurely truncated protein product at the last exon of NEXN without nonsense-mediated decay Furthermore, only a few nonsense variants in the NEXN gene have been reported in Human Gene Mutation Database in association with cardiomyopathy; however, the pathogenicity of these variants has not been definitively determined (Stenson et al., 2014).
Invitae RCV001309065 SCV001498546 uncertain significance Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-08-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the NEXN gene (p.Tyr637*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acids of the NEXN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEXN-related conditions. ClinVar contains an entry for this variant (Variation ID: 201933). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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