ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.412G>A (p.Gly138Arg)

gnomAD frequency: 0.00001  dbSNP: rs1241987279
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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 RCV001977090 SCV002276284 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-03-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 138 of the CNTNAP2 protein (p.Gly138Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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").

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