Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000200419 | SCV000253873 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2023-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 216086). This sequence change creates a premature translational stop signal (p.Asn71Argfs*22) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NBN-related conditions. |
| Ambry Genetics | RCV001014466 | SCV001175176 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-14 | criteria provided, single submitter | clinical testing | The c.211_212insGA pathogenic mutation, located in coding exon 3 of the NBN gene, results from an insertion of two nucleotides at position 211, causing a translational frameshift with a predicted alternate stop codon (p.N71Rfs*22). This alteration was detected in 1/5589 German BRCA1/2-negative probands with breast cancer (Hauke J et al. Cancer Med, 2018 04;7:1349-1358). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, 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. |
| Genome- |
RCV000200419 | SCV002045372 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002503780 | SCV002815451 | likely pathogenic | Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia | 2021-08-27 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003474955 | SCV004199513 | pathogenic | Aplastic anemia | 2023-10-19 | criteria provided, single submitter | clinical testing |