ClinVar Miner

Submissions for variant NC_000007.13:g.(?_146536783)_(146537016_?)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 RCV001916876 SCV002192614 pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-12-06 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 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 Pitt-Hopkins-like syndrome (PMID: 25045150). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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