ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.1013T>C (p.Met338Thr)

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
Invitae RCV000813708 SCV000954077 pathogenic Homocysteinemia due to MTHFR deficiency 2018-08-20 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 338 of the MTHFR protein (p.Met338Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs368321176, ExAC 0.002%). This variant has been observed to segregate with methylenetetrahydrofolate (MTHFR) reductase deficiency in a family (PMID: 25024447), and has been seen in several individuals with MTHFR reductase deficiency (PMID: 25024447, 12673793, 25736335). This variant is also known as 1025T>C in the literature. Experimental studies have shown that this missense change disrupts normal methylenetetrahydrofolate reductase activity (PMID: 12673793, 25736335). For these reasons, this variant has been classified as Pathogenic.

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.