ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2360G>C (p.Gly787Ala)

gnomAD frequency: 0.00002  dbSNP: rs929192800
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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 RCV001298098 SCV001487141 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 787 of the CNTNAP2 protein (p.Gly787Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. 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.
Ambry Genetics RCV002451660 SCV002735749 uncertain significance Inborn genetic diseases 2019-08-27 criteria provided, single submitter clinical testing The p.G787A variant (also known as c.2360G>C), located in coding exon 15 of the CNTNAP2 gene, results from a G to C substitution at nucleotide position 2360. The glycine at codon 787 is replaced by alanine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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