ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.552dup (p.Ala185fs)

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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 RCV003021516 SCV003317141 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala185Argfs*5) in the WWOX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with WWOX-related conditions. This variant is not present in population databases (gnomAD no frequency).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992698 SCV004809586 pathogenic Developmental and epileptic encephalopathy, 28 2024-04-04 criteria provided, single submitter clinical testing

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