ClinVar Miner

Submissions for variant NC_000016.10:g.(?_78099759)_(78432772_?)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 RCV001033320 SCV001196627 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2020-09-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-8 of the WWOX gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 8 of the WWOX gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with WWOX-related conditions. 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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