Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000804317 | SCV000944220 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-12-07 | 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: 649395). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln84*) 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 | RCV004028167 | SCV005019040 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-02-16 | criteria provided, single submitter | clinical testing | The p.Q84* pathogenic mutation (also known as c.250C>T), located in coding exon 3 of the NBN gene, results from a C to T substitution at nucleotide position 250. This changes the amino acid from a glutamine to a stop codon within coding exon 3. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |
| Laboratory for Genotyping Development, |
RCV003166237 | SCV002758179 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |