ClinVar Miner

Submissions for variant NC_012920.1:m.14484T>C (rs199476104)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000223709 SCV000604296 pathogenic not provided 2017-05-26 criteria provided, single submitter clinical testing The m.14484T>C variant is one of three primary pathogenic LHON-causing variants, and is detected in 14% of reported LHON cases (Mackey 1996 and Man 2002). In certain ethnic groups, the proportion can be much higher, such as in individuals of French Canadian ancestry, where 79% of LHON pedigrees carry the m.14484T>C variant (Macmillan 1998). Macmillan (1998) also demonstrated that males carrying this variant are 7.7 times more likely to develop symptoms than females. The clinical presentation of mitochondrial diseases caused by mtDNA variants is highly variable and depends on the total percentage of abnormal mitochondria and tissue-specific distribution. The penetrance of the m.14484T>C variant is also influenced by age, and other environmental and genetic modifiers.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000010325 SCV000998163 pathogenic Leber hereditary optic neuropathy 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.14484T>C (YP_003024037.1:p.Met64Val) variant in MTND6 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PS4
Institute of Human Genetics, University of Leipzig Medical Center RCV000010325 SCV001950062 pathogenic Leber hereditary optic neuropathy 2021-08-25 criteria provided, single submitter clinical testing This variant was identified as homoplasmic
OMIM RCV000010325 SCV000030551 pathogenic Leber hereditary optic neuropathy 2008-08-01 no assertion criteria provided literature only
GeneReviews RCV000010325 SCV000086625 pathogenic Leber hereditary optic neuropathy 2021-03-03 no assertion criteria provided literature only This variant is one of the three most common causes of LHON.
GeneReviews RCV000144018 SCV000188910 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223709 SCV000280192 likely pathogenic not provided 2015-06-12 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-ND6 p.Met64Val This is a well-known disease-causing variant that predisposes to Leber's hereditary optic neuropathy. It is one of the three most common variants for this disease.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000010325 SCV000993415 pathogenic Leber hereditary optic neuropathy 2018-09-25 no assertion criteria provided research
GenomeConnect, ClinGen RCV000010325 SCV001338881 not provided Leber hereditary optic neuropathy no assertion provided phenotyping only Variant interpretted as Pathogenic and reported on 01-26-2018 by Lab or GTR ID 26957. 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.

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.