ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3397_3399del (p.Ser1133del)

dbSNP: rs1303107441
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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 RCV001239438 SCV001412313 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2019-11-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.3397_3399del, results in the deletion of 1 amino acid(s) of the CNTNAP2 protein (p.Ser1133del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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