ClinVar Miner

Submissions for variant m.4160T>C

dbSNP: rs199476119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000010372 SCV002517668 pathogenic Leber optic atrophy 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000010372 SCV000030598 pathogenic Leber optic atrophy 1991-11-01 no assertion criteria provided literature only
GeneReviews RCV000010372 SCV000086637 not provided Leber optic atrophy no assertion 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.

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