ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.372G>A (p.Val124=)

dbSNP: rs748183280
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 RCV002138673 SCV002451980 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352914 SCV002623073 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-12 criteria provided, single submitter clinical testing The c.396G>A variant (also known as p.V132V), located in coding exon 3 of the NTHL1 gene, results from a G to A substitution at nucleotide position 396. This nucleotide substitution does not change the valine at codon 132; however, it may have some effect on normal mRNA splicing. This nucleotide position is not well conserved in available vertebrate species. In addition, in silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, 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.