Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001045647 | SCV001209512 | uncertain significance | Primary dilated cardiomyopathy | 2019-12-02 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NEBL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 50 of the NEBL protein (p.Ser50Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. |
| Ambry Genetics | RCV004031406 | SCV004097857 | uncertain significance | not specified | 2023-08-02 | criteria provided, single submitter | clinical testing | The p.S50N variant (also known as c.149G>A), located in coding exon 2 of the NEBL gene, results from a G to A substitution at nucleotide position 149. The serine at codon 50 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |