ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2813G>A (p.Arg938His)

gnomAD frequency: 0.00001  dbSNP: rs1048353998
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776890 SCV002013820 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002034527 SCV002198157 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 938 of the CNTNAP2 protein (p.Arg938His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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