ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3011-2A>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771678 SCV005382348 likely pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-05-20 criteria provided, single submitter clinical testing The observed spice acceptor variant c.3011-2A>C in CNTNAP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3011-2A>C variant is absent in gnomAD Exomes. The variant affects the AG acceptor splice site upstream to exon 19. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Smogavec M, et al., 2016). For these reasons, this variant has been classified as Likely Pathogenic.

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