Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166379 | SCV000217171 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-12-15 | criteria provided, single submitter | clinical testing | The c.1483_1484delCCinsA pathogenic mutation, located in coding exon 11 of the NBN gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.P495Mfs*34). 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. |
| Gene |
RCV000482780 | SCV000569547 | likely pathogenic | not provided | 2023-06-06 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
| Invitae | RCV000636722 | SCV000758162 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2023-01-06 | 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: 1323331). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is present in population databases (rs764884516, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Pro495Metfs*34) 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). |
| Revvity Omics, |
RCV000482780 | SCV002018217 | pathogenic | not provided | 2019-01-02 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000636722 | SCV002045329 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002485031 | SCV002782763 | likely pathogenic | Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia | 2022-01-19 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003468782 | SCV004199603 | pathogenic | Aplastic anemia | 2023-08-14 | criteria provided, single submitter | clinical testing |