ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)

dbSNP: rs757962437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626989 SCV000747692 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 RCV001199235 SCV001370275 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529801 SCV003207889 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 22 of the DGUOK protein (p.Pro22Leu). This variant is present in population databases (rs757962437, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DGUOK-related conditions. ClinVar contains an entry for this variant (Variation ID: 523554). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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