ClinVar Miner

Submissions for variant m.3635G>A

dbSNP: rs397515507
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 RCV000055707 SCV000996715 likely pathogenic Leber optic atrophy 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3635G>A (YP_003024026.1:p.Ser110Asn) variant in MTND1 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM10, PP4
Mendelics RCV000055707 SCV002517663 pathogenic Leber optic atrophy 2022-05-04 criteria provided, single submitter clinical testing
GeneReviews RCV000055707 SCV000086633 pathogenic Leber optic atrophy 2021-03-03 no assertion criteria provided literature only This mitochondrial DNA variant affects function. It hase been identified in at least two independent LHON pedigrees and segregates with affected disease status.

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.