ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.127C>T (p.Gln43Ter)

dbSNP: rs1284883505
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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 RCV001380098 SCV001578044 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2020-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). This variant has not been reported in the literature in individuals with WWOX-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln43*) in the WWOX gene. It is expected to result in an absent or disrupted protein product.
Kids Research, The Children's Hospital at Westmead RCV005256531 SCV005382057 pathogenic Developmental and epileptic encephalopathy, 28 2024-09-20 criteria provided, single submitter research PVS1, PM2, PP5, PM3

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