ClinVar Miner

Submissions for variant NC_000016.9:g.(?_78420747)_(78458962_?)del

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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 RCV001390384 SCV001592090 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2020-10-09 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 6-7 of the WWOX gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in individual(s) with WWOX-related conditions (PMID: 30356099). 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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