ClinVar Miner

Submissions for variant NC_000016.9:g.(?_78133656)_(78658393_?)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 RCV000708017 SCV000837127 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2019-11-23 criteria provided, single submitter clinical testing This variant results in a copy number gain 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. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This copy-number variant has not been reported in the literature in individuals with WWOX-related conditions. However, larger copy number events that include this portion of the gene have been reported (PMID: 27569545). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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