ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)

dbSNP: rs2127412055
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
Neuberg Centre For Genomic Medicine, NCGM RCV001823697 SCV002073328 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing The missense variant p.D738G in MUT (NM_000255.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.D738G variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. In-silico tools predict are contradictory in their predictions (SIFT-damaging, Polyphen-2-Tolerated) and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.

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.