ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1349-1G>A

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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 RCV003614647 SCV004445556 likely pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-03-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects an acceptor splice site in intron 8 of the CNTNAP2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CNTNAP2 are known to be pathogenic (PMID: 19896112, 21827697, 25045150, 26843181, 27439707). This variant is present in population databases (rs748180430, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions.

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