ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2744G>T (p.Arg915Leu)

dbSNP: rs369919189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484362 SCV000569519 uncertain significance not provided 2021-06-04 criteria provided, single submitter clinical testing Not observed at 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; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001041324 SCV001204930 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 915 of the CNTNAP2 protein (p.Arg915Leu). This variant is present in population databases (rs369919189, 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: 420606). 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: "Benign"; Align-GVGD: "Class C35"). 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 RCV002436537 SCV002748942 uncertain significance Inborn genetic diseases 2018-06-08 criteria provided, single submitter clinical testing The p.R915L variant (also known as c.2744G>T), located in coding exon 17 of the CNTNAP2 gene, results from a G to T substitution at nucleotide position 2744. The arginine at codon 915 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004748784 SCV005349544 uncertain significance CNTNAP2-related disorder 2024-06-12 no assertion criteria provided clinical testing The CNTNAP2 c.2744G>T variant is predicted to result in the amino acid substitution p.Arg915Leu. To our knowledge, this variant has not been reported in individuals with CNTNAP2-related disease in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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