ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3233T>A (p.Leu1078His)

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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 RCV002727212 SCV003002667 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2023-02-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1078 of the CNTNAP2 protein (p.Leu1078His). ClinVar contains an entry for this variant (Variation ID: 1968041). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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