ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.2T>C (p.Met1Thr)

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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 RCV002570027 SCV002934578 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2022-11-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the WWOX protein in which other variant(s) (p.Pro47Thr) have been determined to be pathogenic (PMID: 24369382). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with WWOX-related conditions. This variant is present in population databases (rs758588684, gnomAD 0.03%). This sequence change affects the initiator methionine of the WWOX mRNA. The next in-frame methionine is located at codon 114.

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