ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2460C>A (p.Ser820Arg)

dbSNP: rs144496909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175073 SCV000226501 uncertain significance not provided 2015-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852137 SCV002162463 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2024-08-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 820 of the CNTNAP2 protein (p.Ser820Arg). This variant is present in population databases (rs144496909, 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: 194651). 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. 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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