ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.191C>G (p.Pro64Arg)

dbSNP: rs1563581492
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688507 SCV000816123 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2024-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 64 of the NBN protein (p.Pro64Arg). 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: 568221). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Sema4, Sema4 RCV001805805 SCV002536626 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-03 criteria provided, single submitter curation
Ambry Genetics RCV001805805 SCV002720631 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-25 criteria provided, single submitter clinical testing The p.P64R variant (also known as c.191C>G), located in coding exon 3 of the NBN gene, results from a C to G substitution at nucleotide position 191. The proline at codon 64 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568596 SCV005056150 uncertain significance Aplastic anemia 2024-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000688507 SCV001461781 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-09-16 no assertion criteria provided 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.