ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) (rs756762196)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229073 SCV000290225 pathogenic Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2016-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 264 (p.Arg264*) of the WWOX gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported as a germline variant in the literature, truncating variants in WWOX are known to be pathogenic (PMID: 25411445). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000486785 SCV000567390 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing The R264X variant in the WWOX gene has not been reported previously as a germline pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R264X variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R264X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763386 SCV000894086 pathogenic Malignant tumor of esophagus; Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 2018-10-31 criteria provided, single submitter clinical testing

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