ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu)

gnomAD frequency: 0.00002  dbSNP: rs774934088
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196887 SCV001367521 uncertain significance Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2019-02-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP2.
Ambry Genetics RCV003293987 SCV003997091 uncertain significance Inborn genetic diseases 2023-05-27 criteria provided, single submitter clinical testing The p.A524E variant (also known as c.1571C>A), located in coding exon 9 of the MTHFR gene, results from a C to A substitution at nucleotide position 1571. The alanine at codon 524 is replaced by glutamic acid, an amino acid with dissimilar 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.