ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3665C>T (p.Ser1222Phe)

gnomAD frequency: 0.00001  dbSNP: rs781709263
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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 RCV001215156 SCV001386885 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1222 of the CNTNAP2 protein (p.Ser1222Phe). This variant is present in population databases (rs781709263, gnomAD 0.006%). 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: 944697). 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 C15"). 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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