ClinVar Miner

Submissions for variant NC_000016.9:g.(?_78420747)_(78466659_?)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 RCV001390385 SCV001592091 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2020-09-15 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon(s) 6-8 of the WWOX gene. It preserves the integrity of the reading frame. A similar deletion of exons 6-8 has been observed in individual(s) with autosomal recessive early infantile epileptic encephalopathy (PMID: 25411445, 30356099). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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