ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1787A>T (p.Asp596Val)

dbSNP: rs1005715125
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
Ambry Genetics RCV001013181 SCV001173731 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-26 criteria provided, single submitter clinical testing The p.D596V variant (also known as c.1787A>T), located in coding exon 11 of the NBN gene, results from an A to T substitution at nucleotide position 1787. The aspartic acid at codon 596 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001241999 SCV001415058 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 596 of the NBN protein (p.Asp596Val). 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: 820085). 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 tolerated. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238265 SCV002010440 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001241999 SCV002044551 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241999 SCV002078539 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-03-25 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.