ClinVar Miner

Submissions for variant NC_000013.11:g.(?_99385979)_(99986648_?)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 RCV001031194 SCV001194500 pathogenic Holoprosencephaly 5 2019-12-30 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the ZIC2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar deletions have been observed in individual(s) with holoprosencephaly (PMID: 19955556). In at least one individual the variant was observed to be de novo. Loss-of-function variants in ZIC2 are known to be pathogenic (PMID: 17274816, 19955556, 29770992). For these reasons, this variant has been classified as Pathogenic.

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