ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.918del (p.Glu306fs)

dbSNP: rs1057518795
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198240 SCV001369112 likely pathogenic Developmental and epileptic encephalopathy, 28 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.
Invitae RCV001861445 SCV002161876 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with epileptic encephalopathy (PMID: 27848944, 31623504). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 373950). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu306Aspfs*21) 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).
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415161 SCV000492596 likely pathogenic Epileptic encephalopathy 2016-04-18 no assertion criteria provided clinical testing

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