ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.251C>G (p.Thr84Ser)

gnomAD frequency: 0.00003  dbSNP: rs757145186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489268 SCV000577481 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000650199 SCV000772036 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-03-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 426908). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with WWOX-related conditions. This variant is present in population databases (rs757145186, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 84 of the WWOX protein (p.Thr84Ser).

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