ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)

dbSNP: rs1553403624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626988 SCV000747691 uncertain significance Cognitive impairment; Cerebral atrophy; Memory impairment; Hypoplasia of the corpus callosum; Migraine with aura; Increased CSF lactate; Increased circulating pyruvate concentration 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199234 SCV001370274 uncertain significance Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.

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