ClinVar Miner

Submissions for variant NC_012920.1(MT-ATP6):m.8783G>A

dbSNP: rs1603221804
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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 RCV000854322 SCV000997355 likely pathogenic Leigh syndrome 2019-10-17 criteria provided, single submitter clinical testing The NC_012920.1:m.8783G>A (YP_003024031.1:p.Gly86Glu) variant in MTATP6 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM9, PP3, PP4, PP6, PP7
Mendelics RCV002249549 SCV002517645 pathogenic Leber optic atrophy 2022-05-04 criteria provided, single submitter clinical testing

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