ClinVar Miner

Submissions for variant NC_000007.14:g.(?_146774271)_(146774381_?)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 RCV000464406 SCV000564036 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2016-12-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the CNTNAP2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a CNTNAP2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this variant is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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