ClinVar Miner

Submissions for variant m.1624C>T

dbSNP: rs199476144
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000850667 SCV000992898 likely pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.1624C>T variant in MT-TV gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PP3, PP4
Mendelics RCV000850667 SCV002517734 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010157 SCV000030378 pathogenic Neonatal death 2002-02-01 no assertion criteria provided literature only
OMIM RCV000010158 SCV000030379 pathogenic Leigh syndrome 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000010158 SCV000188913 not provided Leigh syndrome no assertion provided literature only

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.