ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.517-108243C>T

gnomAD frequency: 0.00002  dbSNP: rs551189075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768140 SCV000899095 uncertain significance Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 2021-03-30 criteria provided, single submitter clinical testing WWOX NM_130791 exon 6 p.His177His (c.531C>T): This variant has not been reported in the literature but is present in 10/30378 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs551189075). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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