ClinVar Miner

Submissions for variant NM_006393.3(NEBL):c.1963-13C>T

gnomAD frequency: 0.00002  dbSNP: rs727504904
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Total submissions: 3
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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 RCV000156289 SCV000206007 uncertain significance not specified 2014-01-02 criteria provided, single submitter clinical testing The 1963-13C>T variant in NEBL has not been reported in individuals with cardiom yopathy or in large population studies. This variant is located in the 3' splice region but computational tools do not suggest an impact to splicing. However, t his information is not predictive enough to rule out pathogenicity. Additional s tudies are needed to fully assess its clinical significance.
GeneDx RCV000156289 SCV000721526 likely benign not specified 2017-08-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003619652 SCV004503777 uncertain significance Primary dilated cardiomyopathy 2023-06-28 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 179499). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. This variant is present in population databases (rs727504904, gnomAD 0.02%). This sequence change falls in intron 19 of the NEBL gene. It does not directly change the encoded amino acid sequence of the NEBL protein.

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