ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.67G>C (p.Ala23Pro)

dbSNP: rs1572555080
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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 RCV000855703 SCV000998869 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, PP3, PM3, PS3-supporting.

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