ClinVar Miner

Submissions for variant NC_012920.1(MT-CYB):m.643A>G

dbSNP: rs1603218472
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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 RCV000850657 SCV000992888 uncertain significance MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.643A>G variant in MT-TF gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS4, PP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001805905 SCV001745860 uncertain significance Hypokalemia; Hypomagnesemia; Chronic kidney disease 2021-07-07 criteria provided, single submitter clinical testing The m.643A>G variant was observed in 1 family affected by chronic kidney disease, hypomagnesemia with renal magnesium wasting and hypokalemia.(Viering et al. 2021). The (near-)homoplasmic variant cosegregated with disease. The variant was still scored as a variant of uncertain signficance after following the criteria published by Wong et al. (2020). Based on the study by Viering et al. (2021), the following evidence codes were added for this variant: PS2, PM9, PM10.

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