ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.130C>T (p.Gln44Ter)

dbSNP: rs772370243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000855708 SCV000998882 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, PP1, PVS1-strong, PM3-supporting.

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