ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.410G>T (p.Gly137Val)

dbSNP: rs761879076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000785931 SCV000924511 uncertain significance Developmental and epileptic encephalopathy, 28 2018-06-15 criteria provided, single submitter research The homozygous p.Gly137Val variant was identified by our study in one individual with dystonia. This variant was absent from large population studies. The Glycine (Gly) at position 137 is highly conserved in mammals and evolutionarily distant species, raising the possibility that a change at this position may not be tolerated. Computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain.

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