ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3361G>C (p.Glu1121Gln)

dbSNP: rs572154707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187269 SCV000240851 uncertain significance not provided 2023-03-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002317089 SCV000850184 uncertain significance Inborn genetic diseases 2016-09-07 criteria provided, single submitter clinical testing The p.E1121Q variant (also known as c.3361G>C), located in coding exon 20 of the CNTNAP2 gene, results from a G to C substitution at nucleotide position 3361. The glutamic acid at codon 1121 is replaced by glutamine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857608 SCV002304828 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1121 of the CNTNAP2 protein (p.Glu1121Gln). This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 205318). 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 tolerated. 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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