ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr)

dbSNP: rs104893633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795385 SCV005416831 likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PM3+PP4
OMIM RCV000008637 SCV000028846 pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2005-06-15 no assertion criteria provided literature only

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