ClinVar Miner

Submissions for variant NC_000007.14:g.(?_147043887)_(147044074_?)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 RCV000539805 SCV000645072 pathogenic Cortical dysplasia-focal epilepsy syndrome 2022-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 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 clinical features of CNTNAP2-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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