Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000130673 | SCV000185559 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-20 | criteria provided, single submitter | clinical testing | The p.Q492* pathogenic mutation (also known as c.1474C>T), located in coding exon 11 of the NBN gene, results from a C to T substitution at nucleotide position 1474. This changes the amino acid from a glutamine to a stop codon within coding exon 11. 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 |
RCV000480769 | SCV000570348 | likely pathogenic | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing | Nonsense 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28152038) |
| Labcorp Genetics |
RCV000529643 | SCV000634229 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2024-09-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln492*) 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 present in population databases (rs587782130, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 141946). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000529643 | SCV002045330 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003467153 | SCV004199706 | pathogenic | Aplastic anemia | 2024-02-02 | criteria provided, single submitter | clinical testing |