ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) (rs201008667)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521914 SCV000618390 likely pathogenic not provided 2017-04-07 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the WWOX gene. The Q72X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q72X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q72X variant is observed in 5/66736 (0.007%) alleles from individuals of non-Finnish European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Invitae RCV000798699 SCV000938326 pathogenic Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 2018-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln72*) in the WWOX gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201008667, ExAC 0.007%). This variant has not been reported in the literature in individuals with WWOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 449920). Loss-of-function variants in WWOX are known to be pathogenic (PMID: 24456803, 25411445). For these reasons, this variant has been classified as Pathogenic.

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