Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768028 | SCV000898846 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia | 2018-01-31 | criteria provided, single submitter | clinical testing | NBN NM_002485.4 exon 4 p.Gln130= (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. |
Invitae | RCV000799906 | SCV000939592 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2019-12-05 | criteria provided, single submitter | clinical testing | This sequence change affects codon 130 of the NBN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NBN protein. This variant is present in population databases (rs146150499, ExAC 0.01%). This variant has not been reported in the literature in individuals with NBN-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV001021414 | SCV001183028 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Color | RCV001021414 | SCV001340242 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-17 | criteria provided, single submitter | clinical testing |