ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) (rs587777248)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824131 SCV000965016 pathogenic Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2018-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg54*) in the WWOX gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with WWOX-related disease (PMID: 24456803). ClinVar contains an entry for this variant (Variation ID: 120325). Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000106406 SCV000143899 pathogenic Epileptic encephalopathy, early infantile, 28 2014-01-23 no assertion criteria provided literature only

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