ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)

dbSNP: rs1679497709
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
Institute of Human Genetics, Cologne University RCV001263154 SCV001441236 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2020-09-30 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002275332 SCV002563558 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226455 SCV003922867 likely pathogenic Mitochondrial DNA depletion syndrome 2023-03-30 criteria provided, single submitter clinical testing Variant summary: MPV17 c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) results in an in-frame deletion-insertion that is predicted to cause an in-frame change that alters two amino acids. The variant allele was found at a frequency of 4.8e-05 in 251474 control chromosomes (gnomAD v2.1). This frequency is not higher than estimated for a pathogenic variant in MPV17 causing Mitochondrial DNA Depletion Syndrome - MPV17 Related (4.8e-05 vs 0.0011), allowing no conclusion about variant significance. c.263_265delinsTGT has been reported in the literature in at least two unrelated individuals, one homozygote and one compound heterozygote with a pathogenic variant confirmed in trans, with adult-onset MPV17-related disease (e.g., Garone_2012, Keller_2021). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 (Variation IDs: 983269, 1345696), and all laboratories classified the variant as pathogenic (n = 1) or likely pathogenic (n = 2). 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.