ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1332+3A>C (rs367641890)

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
Illumina Clinical Services Laboratory,Illumina RCV000364957 SCV000463869 uncertain significance Methylmalonic acidemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000488977 SCV000576617 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing The c.1332+3A>C variant in the MUT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 6, and is expected to cause abnormal gene splicing. The c.1332+3A>C variant is observed in 8/10052 (0.08%%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we interpret c.1332+3A>C as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765884 SCV000897287 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-10-31 criteria provided, single submitter 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.