ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)

gnomAD frequency: 0.00016  dbSNP: rs117209694
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650196 SCV000772033 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 asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 330 of the WWOX protein (p.Asn330Lys). This variant is present in population databases (rs117209694, gnomAD 0.03%). This missense change has been observed in individual(s) with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 433131). 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 not 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.
Fulgent Genetics, Fulgent Genetics RCV000764080 SCV000895041 uncertain significance Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 2022-03-07 criteria provided, single submitter clinical testing
GeneDx RCV003227772 SCV003924678 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing Identified in an individual with high HDL-C levels; however, no additional phenotype information was provided and a second WWOX variant was not identified (Motazacker et al., 2013); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23685560, 29358611, 25411445)
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656055 SCV000588331 pathogenic Self-limited epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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