ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.160A>T (p.Lys54Ter)

dbSNP: rs1554161054
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001376569 SCV000641773 pathogenic not provided 2020-08-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant has been observed to be homozygous in several individuals affected with affected with methylmalonic acidemia (PMID: 10923046, 22727635). ClinVar contains an entry for this variant (Variation ID: 466219). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys54*) in the MUT gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV000551650 SCV001810509 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-07-22 criteria provided, single submitter clinical testing
Counsyl RCV000551650 SCV000793657 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-22 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.