Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695952 | SCV000824493 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2023-04-22 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 574115). This variant has been observed in individuals with KCNQ2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 181 of the KCNQ2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNQ2 protein. |
Gene |
RCV002466566 | SCV002762645 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |