ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2717G>A (p.Arg906His)

gnomAD frequency: 0.00006  dbSNP: rs759801195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193443 SCV000247061 uncertain significance not specified 2014-10-31 criteria provided, single submitter clinical testing
Invitae RCV001350856 SCV001545278 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 906 of the CNTNAP2 protein (p.Arg906His). This variant is present in population databases (rs759801195, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 210742). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). Experimental studies have shown that this missense change does not substantially affect CNTNAP2 function (PMID: 29788201). 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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