ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.700G>T (p.Asp234Tyr)

gnomAD frequency: 0.00001  dbSNP: rs867768148
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523893 SCV000619559 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing The D234Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D234Y variant is not observed in large population cohorts (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with CNTNAP2-related disorders (Stenson et al., 2014).
Invitae RCV001327369 SCV001518443 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 234 of the CNTNAP2 protein (p.Asp234Tyr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of CNTNAP2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 450928). 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"). 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 RCV002367737 SCV002665732 uncertain significance Inborn genetic diseases 2018-02-08 criteria provided, single submitter clinical testing The p.D234Y variant (also known as c.700G>T), located in coding exon 5 of the CNTNAP2 gene, results from a G to T substitution at nucleotide position 700. The aspartic acid at codon 234 is replaced by tyrosine, an amino acid with highly 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000523893 SCV004244488 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing PM2, PP3

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