Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206506 | SCV000259448 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2023-09-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln583*) 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. ClinVar contains an entry for this variant (Variation ID: 219533). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000217030 | SCV000275239 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-09 | criteria provided, single submitter | clinical testing | The p.Q583* pathogenic mutation (also known as c.1747C>T), located in coding exon 11 of the NBN gene, results from a C to T substitution at nucleotide position 1747. 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. |
Counsyl | RCV000206506 | SCV000797871 | likely pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2018-02-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753608 | SCV002007168 | 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); Identified in two patients with prostate cancer (Wu 2020); This variant is associated with the following publications: (PMID: 31948886) |
Genome- |
RCV000206506 | SCV002045321 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478725 | SCV002787111 | pathogenic | Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003468931 | SCV004199613 | likely pathogenic | Aplastic anemia | 2023-08-04 | criteria provided, single submitter | clinical testing |