ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys)

gnomAD frequency: 0.00026  dbSNP: rs142806268
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000442070 SCV000511459 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000442070 SCV000571828 uncertain significance not provided 2023-04-04 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 25411445)
Invitae RCV000650207 SCV000772044 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 238 of the WWOX protein (p.Tyr238Cys). This variant is present in population databases (rs142806268, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with WWOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 377189). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt WWOX 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.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731672 SCV001984470 uncertain significance Autosomal recessive spinocerebellar ataxia 12 2021-01-24 criteria provided, single submitter clinical testing

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