ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys)

dbSNP: rs879253840
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000236522 SCV000262801 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005406950 SCV006074412 likely pathogenic Methylmalonic acidemia 2025-04-23 criteria provided, single submitter clinical testing Variant summary: MMUT c.1164T>A (p.Asn388Lys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251242 control chromosomes. c.1164T>A has been observed in at least one homozygous individual affected with Methylmalonic Acidemia (e.g. Forny_2016). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal enzyme activity (e.g. Forny_2016). The following publication has been ascertained in the context of this evaluation (PMID: 27167370). ClinVar contains an entry for this variant (Variation ID: 222929). Based on the evidence outlined above, the variant was classified as likely 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.