ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2611G>T (p.Val871Leu)

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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 RCV002299985 SCV002597180 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-30 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs773125933, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 871 of the CNTNAP2 protein (p.Val871Leu).

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