ClinVar Miner

Submissions for variant NC_012920.1:m.4277T>C

dbSNP: rs876661358
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
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850715 SCV000992948 benign Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.4277T>C variant in MT-TI gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS4, BP4
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223876 SCV000280194 uncertain significance not specified 2011-11-09 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MT-TI m.4277 T>C Given the lack of conservation in that region and lack of reported case data, (reviewed below) we consider this variant a variant of uncertain significance. This variant has been reported previously in one study examining the relationship between mitochondrial tRNA genes and hypertension, however a functional link between this variant and hypertension was not assessed in this study (Maron B et al., 2002). The 4277 position in the MT-TI gene is not highly conserved across species, with several species harboring a cytosine "C" nucleotide at this position. This variant is located in the DHU-loop of MT-TI and it is not predicted to alter the secondary structure of the tRNA-Gly. The variant has not been observed in various control populations of 2704 to 6391 individuals (Mitomap, mtDB, MItoWheel).
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies RCV001009555 SCV001169651 not provided not provided no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-08-2017 by GTR ID 1006. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect facilitates ClinVar submission from the Association for Creatine Deficiencies registry and does not attempt to reinterpret the variant.

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.