Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000733528 | SCV000240848 | uncertain significance | not provided | 2023-04-07 | criteria provided, single submitter | clinical testing | 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 |
Invitae | RCV000472216 | SCV000553425 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2022-06-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 906 of the CNTNAP2 protein (p.Arg906Cys). This variant is present in population databases (rs141617212, gnomAD 0.02%). 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: 205315). 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. |
Eurofins Ntd Llc |
RCV000733528 | SCV000861605 | uncertain significance | not provided | 2018-06-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426903 | SCV002743556 | uncertain significance | Inborn genetic diseases | 2019-08-28 | criteria provided, single submitter | clinical testing | The p.R906C variant (also known as c.2716C>T), located in coding exon 17 of the CNTNAP2 gene, results from a C to T substitution at nucleotide position 2716. The arginine at codon 906 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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. |