ClinVar Miner

Submissions for variant NM_213569.2(NEBL):c.357+64468T>C (rs972622200)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578530 SCV000680644 uncertain significance not specified 2015-08-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NEBL gene. The c.2 T>C variant has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant alters the initiator Methionine residue and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The c.2 T>C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, only four missense variants and no truncating variants in the NEBL gene have been reported in the Human Gene Mutation Database in association with disease (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant"
Invitae RCV000702772 SCV000831641 uncertain significance Primary dilated cardiomyopathy 2018-06-17 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the NEBL mRNA. The next in-frame methionine is located at codon 39. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEBL-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NEBL cause disease. 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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