ClinVar Miner

Submissions for variant NC_000007.13:g.(?_147183007)_(147183153_?)del

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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 RCV001982996 SCV002239698 pathogenic Cortical dysplasia-focal epilepsy syndrome 2021-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the CNTNAP2 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal 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).

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