ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.406G>A (p.Val136Ile)

gnomAD frequency: 0.00001  dbSNP: rs1767739165
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
Invitae RCV001045395 SCV001209244 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 136 of the MUT protein (p.Val136Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MUT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002489589 SCV002776088 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832434 SCV002075438 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2021-09-04 no assertion criteria provided clinical testing

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.