Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728883 | SCV000856504 | uncertain significance | not provided | 2017-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001228663 | SCV001401075 | uncertain significance | Cortical dysplasia-focal epilepsy syndrome | 2022-02-03 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 593754). This variant has not been reported in the literature in individuals affected with CNTNAP2-related conditions. This variant is present in population databases (rs749646225, gnomAD 0.003%). This sequence change affects codon 632 of the CNTNAP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CNTNAP2 protein. It affects a nucleotide within the consensus splice site. |
Gene |
RCV000728883 | SCV001866340 | benign | not provided | 2015-04-03 | criteria provided, single submitter | clinical testing |