ClinVar Miner

Submissions for variant m.4290T>C

dbSNP: rs121434469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850717 SCV000992950 uncertain significance Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.4290T>C variant in MT-TI gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PP3, BS4
OMIM RCV000010228 SCV000030452 pathogenic Encephalopathy, familial progressive necrotizing 2004-05-01 no assertion criteria provided literature only

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