Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001206069 | SCV001377357 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu120*) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). |
| Ambry Genetics | RCV003346362 | SCV004051409 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-09-14 | criteria provided, single submitter | clinical testing | The p.L120* variant (also known as c.359T>G), located in coding exon 4 of the NBN gene, results from a T to G substitution at nucleotide position 359. This changes the amino acid from a leucine to a stop codon within coding exon 4. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Baylor Genetics | RCV003469334 | SCV004199709 | likely pathogenic | Aplastic anemia | 2022-10-20 | criteria provided, single submitter | clinical testing |