ClinVar Miner

Submissions for variant m.4171C>A (rs28616230)

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Total submissions: 3
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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 RCV000010384 SCV000996776 likely pathogenic Leber hereditary optic neuropathy 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.4171C>A (YP_003024026.1:p.Leu289Met) variant in MTND1 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM9, PP4
OMIM RCV000010384 SCV000030610 pathogenic Leber hereditary optic neuropathy 2002-05-01 no assertion criteria provided literature only
GeneReviews RCV000010384 SCV000086638 pathogenic Leber hereditary optic neuropathy 2021-03-03 no assertion criteria 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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