ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)

gnomAD frequency: 0.00001  dbSNP: rs140307681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000524017 SCV000617276 pathogenic not provided 2021-01-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28794150, 18205204, 19748572, 30283818)
Eurofins Ntd Llc (ga) RCV000524017 SCV000860804 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524017 SCV004292605 pathogenic not provided 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp65*) 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 variant is present in population databases (rs140307681, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mitochondrial DNA depletion syndrome (PMID: 18205204). ClinVar contains an entry for this variant (Variation ID: 449312). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034066 SCV005659356 pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1 2024-02-18 criteria provided, single submitter clinical testing

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