ClinVar Miner

Submissions for variant NC_000007.13:g.(?_147600637)_(147844821_?)dup

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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 RCV000821292 SCV000962046 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2018-12-28 criteria provided, single submitter clinical testing Experimental studies are not available for this variant, and the functional significance of a copy number gain of these exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. This variant results in a copy number gain of the genomic region encompassing exons 14-17 of the CNTNAP2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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