ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.986C>T (p.Pro329Leu)

gnomAD frequency: 0.00001  dbSNP: rs1386471248
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561487 SCV000666560 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-15 criteria provided, single submitter clinical testing The p.P329L variant (also known as c.986C>T), located in coding exon 8 of the NBN gene, results from a C to T substitution at nucleotide position 986. The proline at codon 329 is replaced by leucine, an amino acid with similar properties. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001038610 SCV001202089 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2023-07-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 329 of the NBN protein (p.Pro329Leu). 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: 481867). 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.
Genome-Nilou Lab RCV001038610 SCV002044733 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001038610 SCV002078609 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2020-02-26 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.