ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.856C>T (p.Arg286Trp)

gnomAD frequency: 0.00001  dbSNP: rs764014323
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366151 SCV001562446 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-02-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CNTNAP2-related conditions. 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. 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"). This variant is present in population databases (rs764014323, ExAC 0.006%). This sequence change replaces arginine with tryptophan at codon 286 of the CNTNAP2 protein (p.Arg286Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.
GeneDx RCV001587378 SCV001824149 uncertain significance not provided 2020-10-01 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

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