ClinVar Miner

Submissions for variant NC_012920.1(MT-CO2):m.7724A>T

dbSNP: rs1553139599
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
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV003319215 SCV004023283 uncertain significance Mitochondrial disease 2023-07-24 reviewed by expert panel curation The m.7724A>T variant in MT-CO2 was reviewed by the Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel on July 24, 2023. There are no individuals or families with this variant reported in the medical literature to our knowledge. There are several occurrences in population databases. This variant is present in 0.031% of individuals in GenBank MITOMAP sequences, in 0.039% of individuals in gnomAD v3.1.2 (homoplasmic in all individuals), and in 0.088% of individuals in the Helix dataset (homoplasmic in all individuals). The computational predictor APOGEE gives a consensus rating of neutral with a score of 0.3 (Min=0, Max=1), which predicts no damaging effect on gene function (BP4). There are no cybrid, single fiber, or other studies reported for this variant. In summary, this variant meets criteria to be classified as uncertain significance for primary mitochondrial disease inherited in a mitochondrial manner. This classification was approved by the NICHD/NINDS U24 ClinGen Mitochondrial Disease Variant Curation Expert Panel on July 24, 2023. Mitochondrial DNA-specific ACMG/AMP criteria applied (PMID: 32906214): BP4.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000854094 SCV000997127 benign Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.7724A>T (YP_003024029.1:p.Thr47Ser) variant in MTCO2 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4
Athena Diagnostics RCV000992350 SCV001144572 uncertain significance not provided 2018-12-10 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.