ClinVar Miner

Submissions for variant NC_000007.13:g.(?_146471353)_(146537006_?)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 RCV001389414 SCV001590764 pathogenic Cortical dysplasia-focal epilepsy syndrome 2020-09-11 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 2-3 of the CNTNAP2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar copy number variant has been observed in individual(s) with Pitt-Hopkins-like syndrome or other related clinical features (PMID: 26843181, 27439707, 21827697, 22031302, 27066544). Loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707). For these reasons, this variant has been classified as Pathogenic.

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