ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.312del (p.Trp105fs) (rs1064793768)

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
GeneDx RCV000478569 SCV000566981 pathogenic not provided 2015-06-25 criteria provided, single submitter clinical testing The c.312delC deletion in the MUT gene causes a frameshift starting with codon Tryptophan 105,changes this amino acid to a Glycine residue and creates a premature Stop codon at position 75 of the newreading frame, denoted p.Trp105GlyfsX75. This deletion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, it is expected to be pathogenic.
Counsyl RCV000668157 SCV000792711 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-20 criteria provided, single submitter clinical testing
Invitae RCV000478569 SCV001591364 pathogenic not provided 2020-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp105Glyfs*75) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with methylmalonic acidemia (PMID: 30041674). ClinVar contains an entry for this variant (Variation ID: 419283). Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). 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.