ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.80G>A (p.Gly27Glu)

dbSNP: rs755171159
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039445 SCV001202975 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2019-11-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NBN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces glycine with glutamic acid at codon 27 of the NBN protein (p.Gly27Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478669 SCV004222146 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.
Baylor Genetics RCV004570120 SCV005056134 uncertain significance Aplastic anemia 2024-02-27 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.