ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)

dbSNP: rs878855021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234306 SCV000290224 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 241104). 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). This sequence change creates a premature translational stop signal (p.Ser260*) 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).

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