ClinVar Miner

Submissions for variant NC_012920.1:m.11778G>A (rs199476112)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224219 SCV000281600 pathogenic not provided 2014-11-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224219 SCV000604440 pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing m.11778G>A is one of a small number of primary variants which are causative of Leber hereditary optic neuropathy (LHON; MIM: 535000). It is estimated that 70% of LHON families of northern European descent carry the m.11778G>A variant (Mackey 1996).
Fulgent Genetics,Fulgent Genetics RCV000010354 SCV000894486 pathogenic Leber's optic atrophy 2018-10-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000010354 SCV000997789 pathogenic Leber's optic atrophy 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.11778G>A (YP_003024035.1:p.Arg340His) variant in MTND4 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PS4
OMIM RCV000010354 SCV000030580 pathogenic Leber's optic atrophy 2008-12-01 no assertion criteria provided literature only
GeneReviews RCV000010354 SCV000086616 pathologic Leber's optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Pathogenic.
GenomeConnect, ClinGen RCV000010354 SCV000784691 not provided Leber's optic atrophy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000010354 SCV000993412 pathogenic Leber's optic atrophy 2018-06-26 no assertion criteria provided research

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.