ClinVar Miner

Submissions for variant NC_000007.14:g.(?_147300121)_(147395800_?)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 RCV001033327 SCV001196634 pathogenic Cortical dysplasia-focal epilepsy syndrome 2022-02-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 9-10 of the CNTNAP2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707). A similar copy number variant has been observed in individual(s) with CNTNAP2-related disease (PMID: 27439707). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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