ClinVar Miner

Submissions for variant NC_000007.13:g.(?_45067284)_(45115676_?)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 RCV001390064 SCV001591658 pathogenic Cerebral cavernous malformation 2 2020-10-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-10 of the CCM2 gene, which encodes ~98% of the total protein. The boundaries of this event are unknown, as the deletion extends beyond the assayed region for this gene and therefore may include exon 1 of the CCM2 gene (resulting in complete gene deletion) and/or encompass additional genes. Loss-of-function variants in CCM2 are known to be pathogenic. A deletion of exons 2-10 that is mediated by Alu repeat sequences in intron 1 and the intragenic region downstream of exon 10 has been reported in several individuals with cerebral cavernous malformations (PMID: 17160895). For these reasons, this variant has been classified as Pathogenic.

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