ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)

dbSNP: rs1567567249
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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 RCV000690341 SCV000818023 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2018-01-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 12 of the WWOX protein (p.Thr12Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with WWOX-related disease. This variant is not present in population databases (ExAC no frequency).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV002286420 SCV002576487 pathogenic Autosomal recessive spinocerebellar ataxia 12 criteria provided, single submitter clinical testing

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