ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.1035del (p.Arg346fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002853268 SCV003226853 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2021-12-02 criteria provided, single submitter clinical testing This variant disrupts a region of the WWOX protein in which other variant(s) (p.Gly372*) have been determined to be pathogenic (PMID: 31780880; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with WWOX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg346Glyfs*59) in the WWOX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the WWOX protein.

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