ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.297T>A (p.Cys99Ter)

dbSNP: rs1553383467
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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 RCV000625517 SCV000746013 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2017-12-01 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000625517 SCV000998874 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2019-08-13 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Mitochondrial DNA depletion syndrome 6, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-strong.

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