ClinVar Miner

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

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Total submissions: 6
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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.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000010325 SCV000993415 pathogenic Leber's optic atrophy 2018-09-25 no assertion criteria provided research
GeneReviews RCV000010325 SCV000086625 pathologic Leber's optic atrophy 2013-09-19 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000144018 SCV000188910 pathogenic Leigh syndrome 2014-04-17 no assertion criteria provided literature only
OMIM RCV000010325 SCV000030551 pathogenic Leber's optic atrophy 2008-08-01 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.

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