Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156814 | SCV000206535 | uncertain significance | not specified | 2014-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362696 | SCV004085006 | uncertain significance | Inborn genetic diseases | 2023-06-30 | criteria provided, single submitter | clinical testing | The c.2499G>T (p.R833S) alteration is located in exon 24 (coding exon 24) of the NEBL gene. This alteration results from a G to T substitution at nucleotide position 2499, causing the arginine (R) at amino acid position 833 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003509501 | SCV004334203 | uncertain significance | Primary dilated cardiomyopathy | 2023-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 833 of the NEBL protein (p.Arg833Ser). This variant is not present in population databases (gnomAD no frequency). 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: 180011). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |