ClinVar Miner

Submissions for variant NC_012920.1(MT-TK):m.8319A>G

dbSNP: rs1603221401
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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 RCV000850944 SCV000993178 likely pathogenic MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.8319A>G variant in MT-TK gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PM2, PM9, PP3, PP6
MGZ Medical Genetics Center RCV002290478 SCV002580749 uncertain significance Kearns-Sayre syndrome 2022-02-25 criteria provided, single submitter clinical testing

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