ClinVar Miner

Submissions for variant NC_000007.13:g.(?_146471343)_(146741166_?)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 RCV004583522 SCV005064628 pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CNTNAP2 protein in which other variant(s) (Deletion (Exon 2)) have been determined to be pathogenic (PMID: 33895390). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with CNTNAP2-related conditions (PMID: 20502679, 23074684). This variant is a gross deletion of the genomic region encompassing exon(s) 2-4 of the CNTNAP2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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