ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.796A>T (p.Met266Leu)

dbSNP: rs1042657310
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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 RCV002046516 SCV002316336 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-10-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with leucine at codon 266 of the CNTNAP2 protein (p.Met266Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. 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 tolerated. 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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