ClinVar Miner

Submissions for variant NM_016373.3(WWOX):c.410G>A (p.Gly137Glu) (rs761879076)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512753 SCV000608775 likely pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV000525795 SCV000652351 uncertain significance Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2018-05-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 137 of the WWOX protein (p.Gly137Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant also falls at the first nucleotide of exon 5 of the WWOX coding sequence. This variant is present in population databases (rs761879076, ExAC 0.02%). This variant has not been reported in the literature in individuals with WWOX-related disease. ClinVar contains an entry for this variant (Variation ID: 444378). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class 0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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