Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000658204 | SCV000779975 | uncertain significance | not provided | 2018-05-15 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the NEBL gene. The c.67_72delAATGAA variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 5/8732 (0.06%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016). The c.67_72delAATGAA variant is predicted to result in the in-frame deletion of two amino acids, denoted p.Asn23_Glu24del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, this variant has not been observed in a significant number of affected individuals, and it lacks both segregation and functional studies which would further clarify its pathogenicity. |
| Labcorp Genetics |
RCV001231362 | SCV001403882 | uncertain significance | Primary dilated cardiomyopathy | 2023-11-14 | criteria provided, single submitter | clinical testing | This variant, c.67_72del, results in the deletion of 2 amino acid(s) of the NEBL protein (p.Asn23_Glu24del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778962398, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with NEBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 546343). 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. |