ClinVar Miner

Submissions for variant NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln)

gnomAD frequency: 0.00002  dbSNP: rs753635972
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000766130 SCV000746612 likely pathogenic Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 2019-04-30 criteria provided, single submitter clinical testing This individual has been reported in PMID: 30031689 (subject 2).
Labcorp Genetics (formerly Invitae), Labcorp RCV002533149 SCV003461703 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 145 of the MTHFS protein (p.Arg145Gln). This variant is present in population databases (rs753635972, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of 5,10-methenyltetrahydrofolate synthetase deficiency (PMID: 30031689). ClinVar contains an entry for this variant (Variation ID: 522831). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000766130 SCV000897608 pathogenic Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 2019-03-27 no assertion criteria provided literature only

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.