ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)

dbSNP: rs864622143
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Total submissions: 7
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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
GeneDx 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-Nilou Lab RCV000206506 SCV002045321 pathogenic Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, 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

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