ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs144234059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807071 SCV000947102 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 408 of the WWOX protein (p.Arg408Trp). This variant is present in population databases (rs144234059, gnomAD 0.05%). This missense change has been observed in individual(s) with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433132). 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 tolerated. 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.
GeneDx RCV003128810 SCV003805972 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing Reported in a patient with rolandic epilepsy; however, familial segregation information and additional clinical information were not provided (Bobbili et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 24932569, 29358611)
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656056 SCV000588332 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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