ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.306_308dup (p.Arg103_Tyr104insArg)

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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 RCV002801589 SCV003202819 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-05-12 criteria provided, single submitter clinical testing This variant, c.306_308dup, results in the insertion of 1 amino acid(s) of the CNTNAP2 protein (p.Arg103dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected 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.

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