ClinVar Miner

Submissions for variant NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp)

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
Illumina Laboratory Services, Illumina RCV003329215 SCV004036004 uncertain significance Mitochondrial disease 2023-05-04 criteria provided, single submitter clinical testing The HIBCH c.991C>T (p.Arg331Trp) missense variant has been previously identified in trans with a likely pathogenic variant in an individual with Leigh syndrome (PMID: 35094435). The variant is not observed at a significant frequency in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.991C>T (p.Arg331Trp) variant is classified as a variant of uncertain significance for primary mitochondrial disorder.

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.