ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.737T>C (p.Val246Ala)

gnomAD frequency: 0.00001  dbSNP: rs200966505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982787 SCV002225498 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV003156364 SCV003845765 uncertain significance not provided 2022-09-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter 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)

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