ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.541T>C (p.Cys181Arg)

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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 RCV003091175 SCV003474907 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-04-06 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 181 of the CNTNAP2 protein (p.Cys181Arg). This variant is not present in population databases (gnomAD no frequency).

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