ClinVar Miner

Submissions for variant NC_000016.10:g.(?_78278583)_(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
Invitae RCV001032593 SCV001195900 likely pathogenic Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2019-03-28 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exons 6-8 of the WWOX gene. It preserves the integrity of the reading frame. A similar deletion of exons 6-8 has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with infantile epileptic encephalopathy (PMID: 25411445). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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