ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.697C>A (p.His233Asn)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004652549 SCV005140433 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-18 criteria provided, single submitter clinical testing The p.H241N variant (also known as c.721C>A), located in coding exon 5 of the NTHL1 gene, results from a C to A substitution at nucleotide position 721. The histidine at codon 241 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction 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.