ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.45A>C (p.Pro15=)

dbSNP: rs577332041
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001438018 SCV001640885 likely benign Microcephaly, normal intelligence and immunodeficiency 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023856 SCV005019044 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-02 criteria provided, single submitter clinical testing The c.45A>C variant (also known as p.P15P), located in coding exon 2 of the NBN gene, results from an A to C substitution at nucleotide position 45. This nucleotide substitution does not change the proline at codon 15. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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.