ClinVar Miner

Submissions for variant NC_000016.9:g.(?_78352643)_(78420837_?)dup

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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 RCV000550477 SCV000652333 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2017-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in WWOX are known to be pathogenic (PMID: 25411445). This variant is a gross duplication of the genomic region encompassing most of exon 6 of the WWOX gene, including the intron 5-exon 6 boundary (c.517-68114_597dup). The duplicated copy of this region is in tandem. This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product.

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