ClinVar Miner

Submissions for variant NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156877 SCV000206598 uncertain significance not specified 2014-10-22 criteria provided, single submitter clinical testing The c.(?_1228-240)_(1338+281_?)del variant in NEBL has not been previously repor ted in individuals with cardiomyopathy. This variant is a deletion encompassing exon 13 and is predicted to result in a truncated or absent protein. While misse nse variants in NEBL have been reported in individuals with DCM and endocardial fibroelastosis, and mouse studies provide support for a role of this gene in the etiology of dilated cardiomyopathy (Purevjav 2010), the spectrum of pathogenic variation has not been fully elucidated and it is unclear if this variant will c ontribute to disease. In summary, the clinical significance of the c.(?_1228-240 )_(1338+281_?)del variant is uncertain.

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