ClinVar Miner

Submissions for variant NC_000007.13:g.(?_146740989)_(146741156_?)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 RCV001389413 SCV001590761 pathogenic Cortical dysplasia-focal epilepsy syndrome 2020-07-21 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the CNTNAP2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CNTNAP2-related disease. Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 25045150, 26843181). For these reasons, this variant has been classified as Pathogenic.

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