Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001881944 | SCV002158320 | uncertain significance | Koolen-de Vries syndrome | 2021-03-15 | 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with KANSL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 734 of the KANSL1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KANSL1 protein. |