ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) (rs765284825)

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
Counsyl RCV000666577 SCV000790887 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV001388780 SCV001589912 pathogenic not provided 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 616 of the MUT protein (p.Arg616Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs765284825, ExAC 0.009%). This variant has been observed in individual(s) with methylmalonic aciduria (PMID: 15781192, 26790480, 20549364, 16281286, 30209273). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551499). This variant has been reported to affect MUT protein function (PMID: 19955418). 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.