ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)

dbSNP: rs777725264
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
Genetic Services Laboratory, University of Chicago RCV000499928 SCV000595859 pathogenic Combined oxidative phosphorylation defect type 15 2016-05-10 criteria provided, single submitter clinical testing
Invitae RCV003558416 SCV004297616 pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu74Lysfs*3) in the MTFMT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTFMT are known to be pathogenic (PMID: 21907147, 24461907). This variant is present in population databases (rs777725264, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with MTFMT-related conditions (PMID: 24461907, 25911677). ClinVar contains an entry for this variant (Variation ID: 435899). 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.