ClinVar Miner

Submissions for variant NC_000007.14:g.(?_146116001)_(146116993_?)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 RCV000527212 SCV000645071 pathogenic Cortical dysplasia-focal epilepsy syndrome 2018-08-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the CNTNAP2 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the CNTNAP2 gene. This is expected to result in an absent or disrupted protein product. A similar deletion of exon 1 has been reported in combination with a second CNTNAP2 variant in individuals affected with intellectual disability, early onset epilepsy, and behavioral anomalies (PMID: 27439707). 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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