ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.390A>G (p.Gln130=)

gnomAD frequency: 0.00001  dbSNP: rs146150499
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768028 SCV000898846 uncertain significance Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 2021-03-30 criteria provided, single submitter clinical testing NBN NM_002485 exon 4 p.Gln130Gln (c.390A>G): This variant has not been reported in the literature but is present in 4/111612 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs146150499). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000799906 SCV000939592 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021414 SCV001183028 likely benign Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001619837 SCV001845674 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000799906 SCV002045972 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271580 SCV002556269 likely benign not specified 2022-06-30 criteria provided, single submitter clinical testing

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