ClinVar Miner

Submissions for variant NC_012920.1(MT-ND1):m.3481G>A

dbSNP: rs587776433
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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 RCV000853660 SCV000996689 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.3481G>A (YP_003024026.1:p.Glu59Lys) variant in MTND1 gene is interpretated to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS3, PM8, PM9, PP4, PP6
GeneReviews RCV000143999 SCV000188885 not provided Leigh syndrome no assertion provided literature only
GeneReviews RCV000853660 SCV004042628 not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke no assertion provided literature only

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