ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) (rs765373403)

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
Counsyl RCV000210826 SCV000799464 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV000210826 SCV001419057 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-10-30 criteria provided, single submitter clinical testing This variant, c.1038_1040del, results in the deletion of 1 amino acid(s) of the MUT protein (p.Leu347del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765373403, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another MUT variant in several individuals affected with methylmalonic acidemia (PMID: 16281286, 15781192, 15643616, 26790480). This variant is also known as c.1036.1038delCTT, p.L346del in the literature. ClinVar contains an entry for this variant (Variation ID: 225184). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000210826 SCV000267121 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2013-05-05 no assertion criteria provided research

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.