ClinVar Miner

Submissions for variant NC_000016.10:g.(?_78278583)_(78386968_?)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 RCV001033621 SCV001196928 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2019-10-07 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 6 of the WWOX gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 6 has been reported in combination with another WWOX variant in an individual affected with infantile epileptic encephalopathy (PMID: 25411445). ClinVar has an entry for a similar variant (Variant ID: 180247) Loss-of-function variants in WWOX are known to be pathogenic (PMID: 25411445). For these reasons, this variant has been classified as Pathogenic.

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