ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.781-6G>A

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
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital RCV003389932 SCV004099280 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2023-10-28 criteria provided, single submitter clinical testing The proband experienced a significant increase in Hcy levels, and after taking betaine and vitamin B12, the Hcy levels decreased.

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.