ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.578T>C (p.Ile193Thr)

dbSNP: rs1586101162
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985879 SCV001134513 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024532 SCV001186563 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-06 criteria provided, single submitter clinical testing The p.I193T variant (also known as c.578T>C), located in coding exon 5 of the NBN gene, results from a T to C substitution at nucleotide position 578. The isoleucine at codon 193 is replaced by threonine, an amino acid with similar 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.
Genome-Nilou Lab RCV001275522 SCV002045174 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV001275522 SCV002151256 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-10-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 801236). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 193 of the NBN protein (p.Ile193Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Natera, Inc. RCV001275522 SCV001460737 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.