ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) (rs144234059)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807071 SCV000947102 uncertain significance Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 408 of the WWOX protein (p.Arg408Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs144234059, ExAC 0.04%). This variant has been observed in an individual affected with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433132). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656056 SCV000588332 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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