ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.398A>C (p.His133Pro)

gnomAD frequency: 0.00001  dbSNP: rs1688060865
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 RCV004523791 SCV005024056 uncertain significance not specified 2023-10-15 criteria provided, single submitter clinical testing The p.H133P variant (also known as c.398A>C), located in coding exon 2 of the IDH1 gene, results from an A to C substitution at nucleotide position 398. The histidine at codon 133 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. 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.