Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000442070 | SCV000511459 | uncertain significance | not provided | 2016-07-11 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Gene |
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, |
RCV001731672 | SCV001984470 | uncertain significance | Autosomal recessive spinocerebellar ataxia 12 | 2021-01-24 | criteria provided, single submitter | clinical testing |