ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter)

dbSNP: rs104893630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512916 SCV003524664 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs104893630, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg105*) in the DGUOK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DGUOK are known to be pathogenic (PMID: 18205204). This premature translational stop signal has been observed in individual(s) with mitochondrial DNA depletion syndrome (PMID: 12210798, 29137425, 30589726, 33486010). ClinVar contains an entry for this variant (Variation ID: 8154). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008632 SCV000028841 pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2002-08-01 no assertion criteria provided literature only

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